{"id":"https://openalex.org/W2004349922","doi":"https://doi.org/10.1002/ajmg.a.33927","title":"AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome","display_name":"AXIN2-associated autosomal dominant ectodermal dysplasia and neoplastic syndrome","publication_year":2011,"publication_date":"2011-03-17","ids":{"openalex":"https://openalex.org/W2004349922","doi":"https://doi.org/10.1002/ajmg.a.33927","mag":"2004349922","pmid":"https://pubmed.ncbi.nlm.nih.gov/21416598","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/3094478"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.33927","doi":"https://doi.org/10.1002/ajmg.a.33927","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.33927","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3094478","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5035207158","display_name":"Monica L. Marvin","orcid":"https://orcid.org/0000-0001-7697-2648","observed_orcids":["https://orcid.org/0000-0001-7697-2648"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Monica L. Marvin","raw_affiliation_strings":["Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA. monicama@umich.edu","Department of Human Genetics, University of Michigan, Ann Arbor, Michigan","Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA. monicama@umich.edu","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"Department of Human Genetics, University of Michigan, Ann Arbor, Michigan","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034691067","display_name":"Serina M. Mazzoni","orcid":"https://orcid.org/0000-0001-7433-9478","observed_orcids":["https://orcid.org/0000-0001-7433-9478"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Serina M. Mazzoni","raw_affiliation_strings":["Department of Human Genetics, University of Michigan, Ann Arbor, Michigan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Michigan, Ann Arbor, Michigan","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015033930","display_name":"Casey M. Herron","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Casey M. Herron","raw_affiliation_strings":["Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan","Department of Human Genetics, University of Michigan, Ann Arbor, Michigan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"Department of Human Genetics, University of Michigan, Ann Arbor, Michigan","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103529896","display_name":"Sean P. Edwards","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Sean Edwards","raw_affiliation_strings":["Department of Surgery, University of Michigan, Ann Arbor, Michigan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, University of Michigan, Ann Arbor, Michigan","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5070703103","display_name":"Stephen B. Gruber","orcid":"https://orcid.org/0000-0001-8656-7822","observed_orcids":["https://orcid.org/0000-0001-8656-7822"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Stephen B. Gruber","raw_affiliation_strings":["Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan","Department of Human Genetics, University of Michigan, Ann Arbor, Michigan","Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Epidemiology, School of Public Health, University of Michigan, Ann Arbor, Michigan","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"Department of Human Genetics, University of Michigan, Ann Arbor, Michigan","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5037942952","display_name":"Elizabeth M. Petty","orcid":"https://orcid.org/0000-0003-1171-7608","observed_orcids":["https://orcid.org/0000-0003-1171-7608"]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Elizabeth M. Petty","raw_affiliation_strings":["Department of Human Genetics, University of Michigan, Ann Arbor, Michigan","Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Michigan, Ann Arbor, Michigan","institution_ids":["https://openalex.org/I27837315"]},{"raw_affiliation_string":"Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan","institution_ids":["https://openalex.org/I27837315"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5035207158"],"corresponding_institution_ids":["https://openalex.org/I27837315"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":1.5567,"has_fulltext":true,"cited_by_count":93,"citation_normalized_percentile":{"value":0.81437971,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":96,"max":100},"biblio":{"volume":"155","issue":"4","first_page":"898","last_page":"902"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":0.8925999999046326,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":0.8925999999046326,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11369","display_name":"Genetic factors in colorectal cancer","score":0.06920000165700912,"subfield":{"id":"https://openalex.org/subfields/2734","display_name":"Pathology and Forensic Medicine"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10929","display_name":"Wnt/\u03b2-catenin signaling in development and cancer","score":0.011500000022351742,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/axin2","display_name":"Axin2","score":0.9739999771118164},{"id":"https://openalex.org/keywords/oligodontia","display_name":"oligodontia","score":0.8240000009536743},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.871999979019165},{"id":"https://openalex.org/keywords/truncated-protein","display_name":"truncated protein","score":0.7269999980926514},{"id":"https://openalex.org/keywords/dix-domain","display_name":"DIX domain","score":0.8989999890327454},{"id":"https://openalex.org/keywords/wnt-signaling","display_name":"Wnt signaling","score":0.8939999938011169},{"id":"https://openalex.org/keywords/colorectal-cancer","display_name":"colorectal cancer","score":0.9070000052452087},{"id":"https://openalex.org/keywords/breast-cancer","display_name":"breast cancer","score":0.9929999709129333},{"id":"https://openalex.org/keywords/colonic-polyposis","display_name":"colonic polyposis","score":0.9599999785423279},{"id":"https://openalex.org/keywords/gastric-polyps","display_name":"gastric polyps","score":0.9229999780654907},{"id":"https://openalex.org/keywords/hereditary-cancer-syndromes","display_name":"hereditary cancer","score":0.46399998664855957},{"id":"https://openalex.org/keywords/heritable-mutations","display_name":"inherited mutations","score":0.30799999833106995}],"concepts":[{"id":"https://openalex.org/C99732316","wikidata":"https://www.wikidata.org/wiki/Q18032812","display_name":"AXIN2","level":4,"score":0.9344046711921692},{"id":"https://openalex.org/C2777304866","wikidata":"https://www.wikidata.org/wiki/Q1323713","display_name":"Ectodermal dysplasia","level":2,"score":0.9138541221618652},{"id":"https://openalex.org/C2911012909","wikidata":"https://www.wikidata.org/wiki/Q1549421","display_name":"Oligodontia","level":2,"score":0.8532114028930664},{"id":"https://openalex.org/C96777560","wikidata":"https://www.wikidata.org/wiki/Q518638","display_name":"Nonsense mutation","level":5,"score":0.6895451545715332},{"id":"https://openalex.org/C2777230673","wikidata":"https://www.wikidata.org/wiki/Q1077955","display_name":"Hypohidrotic ectodermal dysplasia","level":3,"score":0.6050451993942261},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6006830334663391},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5710804462432861},{"id":"https://openalex.org/C2779385247","wikidata":"https://www.wikidata.org/wiki/Q1549421","display_name":"Hypodontia","level":2,"score":0.567013144493103},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5640375018119812},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.5135207772254944},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.48094886541366577},{"id":"https://openalex.org/C137620995","wikidata":"https://www.wikidata.org/wiki/Q155769","display_name":"Wnt signaling pathway","level":3,"score":0.3334464430809021},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.33102935552597046},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3163202106952667},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.1774693727493286},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12917983531951904},{"id":"https://openalex.org/C199343813","wikidata":"https://www.wikidata.org/wiki/Q12128","display_name":"Dentistry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003598","descriptor_name":"Cytoskeletal Proteins","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D004476","descriptor_name":"Ectodermal Dysplasia","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005799","descriptor_name":"Genes, Dominant","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008875","descriptor_name":"Middle Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009386","descriptor_name":"Neoplastic Syndromes, Hereditary","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019943","descriptor_name":"Amino Acid Substitution","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D057809","descriptor_name":"HEK293 Cells","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D060466","descriptor_name":"Axin Protein","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1002/ajmg.a.33927","doi":"https://doi.org/10.1002/ajmg.a.33927","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.33927","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:21416598","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21416598","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of medical genetics. Part A","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:3094478","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3094478","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Am J Med Genet A","raw_type":"Text"},{"id":"pmh:oai:deepblue.lib.umich.edu:2027.42/83469","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/2027.42/83469","pdf_url":"https://hdl.handle.net/2027.42/83469","source":{"id":"https://openalex.org/S4306400393","display_name":"Deep Blue (University of Michigan)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I27837315","host_organization_name":"University of Michigan","host_organization_lineage":["https://openalex.org/I27837315"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Article"}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:3094478","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/3094478","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"acceptedVersion","is_accepted":true,"is_published":false,"raw_source_name":"Am J Med Genet A","raw_type":"Text"},"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.8500000238418579,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G1939941310","display_name":null,"funder_award_id":"R01 CA81488","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G3016329640","display_name":"Michigan Predoctoral Training in Genetics","funder_award_id":"T32GM007544","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G7674072152","display_name":null,"funder_award_id":"CA81488","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G8676635902","display_name":null,"funder_award_id":"5 P30 CA465920","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"},{"id":"https://openalex.org/G877108674","display_name":"Molecular Epidemiology of Colorectal Cancer","funder_award_id":"R01CA081488","funder_id":"https://openalex.org/F4320337351","funder_display_name":"National Cancer Institute"}],"funders":[{"id":"https://openalex.org/F4320337351","display_name":"National Cancer Institute","ror":"https://ror.org/040gcmg81"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":14,"referenced_works":["https://openalex.org/W68671850","https://openalex.org/W1995038592","https://openalex.org/W1996557314","https://openalex.org/W2000042026","https://openalex.org/W2030449307","https://openalex.org/W2033106726","https://openalex.org/W2041177943","https://openalex.org/W2069147696","https://openalex.org/W2113493324","https://openalex.org/W2127908773","https://openalex.org/W2145887862","https://openalex.org/W2146812359","https://openalex.org/W2159552267","https://openalex.org/W2161025693"],"related_works":["https://openalex.org/W2912693813","https://openalex.org/W4386167451","https://openalex.org/W4322757891","https://openalex.org/W3211019205","https://openalex.org/W7098356558","https://openalex.org/W1973758331","https://openalex.org/W3049253467","https://openalex.org/W1968559300","https://openalex.org/W4301261714","https://openalex.org/W3194539663"],"abstract_inverted_index":{"We":[0],"describe":[1],"a":[2,5,28,52,97,103,111],"family":[3,91],"with":[4,17,33,92,102,119],"novel,":[6],"inherited":[7],"AXIN2":[8,81,113],"mutation":[9,47,72,105,114],"(c.1989G>A)":[10],"segregating":[11,101],"in":[12,115],"an":[13,89,116,127],"autosomal":[14,93,128],"dominant":[15,94,129],"pattern":[16],"oligodontia":[18,95],"and":[19,36,38,42,66,96,133],"variable":[20,98],"other":[21],"findings":[22],"including":[23,62],"colonic":[24],"polyposis,":[25],"gastric":[26],"polyps,":[27],"mild":[29],"ectodermal":[30,131],"dysplasia":[31,132],"phenotype":[32,100],"sparse":[34],"hair":[35],"eyebrows,":[37],"early":[39],"onset":[40],"colorectal":[41,99],"breast":[43],"cancers.":[44],"This":[45,70],"novel":[46],"predicts":[48],"p.Trp663X,":[49],"which":[50],"is":[51,56,73],"truncated":[53],"protein":[54],"that":[55],"missing":[57],"the":[58,63,77],"last":[59],"three":[60],"exons,":[61],"DIX":[64],"(Disheveled":[65],"AXIN":[67],"interacting)":[68],"domain.":[69],"nonsense":[71,104],"predicted":[74],"to":[75],"destroy":[76],"inhibitory":[78],"action":[79],"of":[80,106],"on":[82],"WNT":[83],"signaling.":[84],"Previous":[85],"authors":[86],"have":[87],"described":[88],"unrelated":[90,117],"AXIN2,":[107],"as":[108,110],"well":[109],"frameshift":[112],"individual":[118],"oligodontia.":[120],"Our":[121],"report":[122],"provides":[123],"additional":[124],"evidence":[125],"supporting":[126],"AXIN2-associated":[130],"neoplastic":[134],"syndrome.":[135]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":5},{"year":2022,"cited_by_count":6},{"year":2021,"cited_by_count":10},{"year":2020,"cited_by_count":9},{"year":2019,"cited_by_count":8},{"year":2018,"cited_by_count":14},{"year":2017,"cited_by_count":4},{"year":2016,"cited_by_count":7},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":6},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}