{"id":"https://openalex.org/W1996364981","doi":"https://doi.org/10.1111/j.1399-0004.2006.00700.x","title":"Wilms\u2019 tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism","display_name":"Wilms\u2019 tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism","publication_year":2006,"publication_date":"2006-10-09","ids":{"openalex":"https://openalex.org/W1996364981","doi":"https://doi.org/10.1111/j.1399-0004.2006.00700.x","mag":"1996364981","pmid":"https://pubmed.ncbi.nlm.nih.gov/17100991"},"language":"en","primary_location":{"id":"doi:10.1111/j.1399-0004.2006.00700.x","doi":"https://doi.org/10.1111/j.1399-0004.2006.00700.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1399-0004.2006.00700.x","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","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":"Clinical Genetics","raw_type":"journal-article"},"parent_works":[],"lineage":["https://openalex.org/W1996364981"],"child_works_count":0,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5111601490","display_name":"Riikka H. H\u00e4m\u00e4l\u00e4inen","orcid":"https://orcid.org/0000-0002-5102-0672","observed_orcids":["https://orcid.org/0000-0002-5102-0672","https://orcid.org/0000-0002-4755-5981"]},"institutions":[{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]}],"countries":["FI"],"is_corresponding":true,"raw_author_name":"RH H\u00e4m\u00e4l\u00e4inen","raw_affiliation_strings":["Folkh\u00e4lsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland. riikka.h.hamalainen@helsinki.fi","Folkh\u00e4lsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Folkh\u00e4lsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland. riikka.h.hamalainen@helsinki.fi","institution_ids":["https://openalex.org/I133731052"]},{"raw_affiliation_string":"Folkh\u00e4lsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland","institution_ids":["https://openalex.org/I133731052"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5039343928","display_name":"David R. Mowat","orcid":"https://orcid.org/0000-0002-3730-0870","observed_orcids":["https://orcid.org/0000-0002-3730-0870"]},"institutions":[{"id":"https://openalex.org/I31746571","display_name":"UNSW Sydney","ror":"https://ror.org/03r8z3t63","country_code":"AU","type":"education","lineage":["https://openalex.org/I31746571"]},{"id":"https://openalex.org/I4210125633","display_name":"Sydney Children's Hospital","ror":"https://ror.org/02tj04e91","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210125633","https://openalex.org/I4210149013"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"D Mowat","raw_affiliation_strings":["Department of Medical Genetics, Sydney Children\u2019s Hospital","School of Women\u2019s and Children\u2019s Health, University of New South Wales"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Sydney Children\u2019s Hospital","institution_ids":["https://openalex.org/I4210125633"]},{"raw_affiliation_string":"School of Women\u2019s and Children\u2019s Health, University of New South Wales","institution_ids":["https://openalex.org/I31746571"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062557056","display_name":"Michael T. Gabbett","orcid":"https://orcid.org/0000-0002-5828-315X","observed_orcids":["https://orcid.org/0000-0002-5828-315X"]},"institutions":[{"id":"https://openalex.org/I4210125633","display_name":"Sydney Children's Hospital","ror":"https://ror.org/02tj04e91","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210125633","https://openalex.org/I4210149013"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"MT Gabbett","raw_affiliation_strings":["Department of Medical Genetics, Sydney Children\u2019s Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Sydney Children\u2019s Hospital","institution_ids":["https://openalex.org/I4210125633"]}]},{"author_position":"middle","author":{"id":null,"display_name":"TA O\u2019Brien","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I31746571","display_name":"UNSW Sydney","ror":"https://ror.org/03r8z3t63","country_code":"AU","type":"education","lineage":["https://openalex.org/I31746571"]},{"id":"https://openalex.org/I4210125633","display_name":"Sydney Children's Hospital","ror":"https://ror.org/02tj04e91","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I4210125633","https://openalex.org/I4210149013"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"TA O\u2019Brien","raw_affiliation_strings":["Centre for Children\u2019s Cancer & Blood Disorders and Department of Haematology and Oncology, Sydney Children\u2019s Hospital, Sydney, Australia","School of Women\u2019s and Children\u2019s Health, University of New South Wales"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Children\u2019s Cancer & Blood Disorders and Department of Haematology and Oncology, Sydney Children\u2019s Hospital, Sydney, Australia","institution_ids":["https://openalex.org/I4210125633"]},{"raw_affiliation_string":"School of Women\u2019s and Children\u2019s Health, University of New South Wales","institution_ids":["https://openalex.org/I31746571"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5077610599","display_name":"Jukka Kallij\u00e4rvi","orcid":"https://orcid.org/0000-0003-3773-7025","observed_orcids":["https://orcid.org/0000-0003-3773-7025"]},"institutions":[{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"J Kallij\u00e4rvi","raw_affiliation_strings":["Folkha\u0308lsan Institute of Genetics, Department of Medical Genetics and Neuroscience center, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland","Folkh\u00e4lsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Folkha\u0308lsan Institute of Genetics, Department of Medical Genetics and Neuroscience center, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland","institution_ids":["https://openalex.org/I133731052"]},{"raw_affiliation_string":"Folkh\u00e4lsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland","institution_ids":["https://openalex.org/I133731052"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5042806203","display_name":"Anna\u2010Elina Lehesjoki","orcid":"https://orcid.org/0000-0003-4014-3113","observed_orcids":["https://orcid.org/0000-0003-4014-3113"]},"institutions":[{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"A\u2010E Lehesjoki","raw_affiliation_strings":["Folkha\u0308lsan Institute of Genetics, Department of Medical Genetics and Neuroscience center, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland","Folkh\u00e4lsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Folkha\u0308lsan Institute of Genetics, Department of Medical Genetics and Neuroscience center, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland","institution_ids":["https://openalex.org/I133731052"]},{"raw_affiliation_string":"Folkh\u00e4lsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland","institution_ids":["https://openalex.org/I133731052"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5111601490"],"corresponding_institution_ids":["https://openalex.org/I133731052"],"apc_list":{"value":4980,"currency":"USD","value_usd":4980},"apc_paid":null,"fwci":1.062,"has_fulltext":false,"cited_by_count":28,"citation_normalized_percentile":{"value":0.73515243,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"70","issue":"6","first_page":"473","last_page":"479"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.5464000105857849,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.5464000105857849,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T12140","display_name":"Renal and related cancers","score":0.2563000023365021,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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/T12355","display_name":"Genetic and rare skin diseases.","score":0.023099999874830246,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/mulibrey-nanism","display_name":"Mulibrey nanism","score":0.9660000205039978},{"id":"https://openalex.org/keywords/trim37","display_name":"TRIM37","score":0.8529999852180481},{"id":"https://openalex.org/keywords/wilms-tumor","display_name":"Wilms tumor","score":0.9300000071525574},{"id":"https://openalex.org/keywords/novel-mutations","display_name":"novel mutations","score":0.8059999942779541},{"id":"https://openalex.org/keywords/traf-domain","display_name":"TRAF domain","score":0.7419999837875366},{"id":"https://openalex.org/keywords/in-frame-deletion","display_name":"in-frame deletion","score":0.9700000286102295},{"id":"https://openalex.org/keywords/subcellular-localization","display_name":"subcellular localization","score":0.8379999995231628},{"id":"https://openalex.org/keywords/protein-protein-interaction","display_name":"protein-protein interaction","score":0.7940000295639038},{"id":"https://openalex.org/keywords/3-m-syndrome","display_name":"3-M syndrome","score":0.8050000071525574},{"id":"https://openalex.org/keywords/silver-russell-syndrome","display_name":"Silver-Russell syndrome","score":0.9860000014305115},{"id":"https://openalex.org/keywords/differential-diagnosis","display_name":"differential diagnosis","score":0.9340000152587891},{"id":"https://openalex.org/keywords/growth-disorders","display_name":"growth disorders","score":0.546999990940094},{"id":"https://openalex.org/keywords/molecular-diagnosis","display_name":"molecular diagnosis","score":0.49399998784065247},{"id":"https://openalex.org/keywords/ultrasound-surveillance","display_name":"ultrasound surveillance","score":0.7490000128746033}],"concepts":[{"id":"https://openalex.org/C2775999222","wikidata":"https://www.wikidata.org/wiki/Q756289","display_name":"Wilms' tumor","level":2,"score":0.6318660974502563},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.5890654921531677},{"id":"https://openalex.org/C2781183200","wikidata":"https://www.wikidata.org/wiki/Q192298","display_name":"Ring finger","level":3,"score":0.54892897605896},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5156130194664001},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5096039772033691},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4643210768699646},{"id":"https://openalex.org/C134459356","wikidata":"https://www.wikidata.org/wiki/Q4274835","display_name":"Ubiquitin ligase","level":4,"score":0.4472888708114624},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4055462181568146},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.3902457058429718},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.38652440905570984},{"id":"https://openalex.org/C25602115","wikidata":"https://www.wikidata.org/wiki/Q407111","display_name":"Ubiquitin","level":3,"score":0.3044500946998596},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12734931707382202}],"mesh":[{"descriptor_ui":"D000070584","descriptor_name":"Tripartite Motif Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001315","descriptor_name":"Australia","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":"D004252","descriptor_name":"DNA Mutational Analysis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005455","descriptor_name":"Fluorescent Antibody Technique","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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007680","descriptor_name":"Kidney Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009396","descriptor_name":"Wilms Tumor","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009687","descriptor_name":"Nuclear Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017931","descriptor_name":"DNA Primers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D020133","descriptor_name":"Reverse Transcriptase Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044465","descriptor_name":"White People","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D044767","descriptor_name":"Ubiquitin-Protein Ligases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050336","descriptor_name":"Mulibrey Nanism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":3,"locations":[{"id":"doi:10.1111/j.1399-0004.2006.00700.x","doi":"https://doi.org/10.1111/j.1399-0004.2006.00700.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1399-0004.2006.00700.x","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","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":"Clinical Genetics","raw_type":"journal-article"},{"id":"pmid:17100991","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17100991","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":"Clinical genetics","raw_type":"Case Reports"},{"id":"pmh:oai:eprints.qut.edu.au:131683","doi":null,"is_oa":false,"landing_page_url":"https://github.com/JeremyMGibson/verbose-garbanzo/raw/master/131683/871374","pdf_url":null,"source":{"id":"https://openalex.org/S4306402607","display_name":"QUT ePrints (Queensland University of Technology)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I160993911","host_organization_name":"Queensland University of Technology","host_organization_lineage":["https://openalex.org/I160993911"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Clinical Genetics","raw_type":"Contribution to Journal"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.979200005531311,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":31,"referenced_works":["https://openalex.org/W155481001","https://openalex.org/W1489420155","https://openalex.org/W1576464279","https://openalex.org/W1599334180","https://openalex.org/W1772199497","https://openalex.org/W1967642652","https://openalex.org/W1971384917","https://openalex.org/W1971503858","https://openalex.org/W1979572912","https://openalex.org/W1995020096","https://openalex.org/W2007898107","https://openalex.org/W2008465453","https://openalex.org/W2015932024","https://openalex.org/W2016324101","https://openalex.org/W2017474273","https://openalex.org/W2017817760","https://openalex.org/W2057473713","https://openalex.org/W2061603465","https://openalex.org/W2061927096","https://openalex.org/W2065776595","https://openalex.org/W2086093748","https://openalex.org/W2087163708","https://openalex.org/W2099483996","https://openalex.org/W2116773729","https://openalex.org/W2122642773","https://openalex.org/W2125052969","https://openalex.org/W2146497751","https://openalex.org/W2258665921","https://openalex.org/W2337250833","https://openalex.org/W2409990259","https://openalex.org/W6703104256"],"related_works":["https://openalex.org/W2028089707","https://openalex.org/W2013062145","https://openalex.org/W4245048328","https://openalex.org/W1183020709","https://openalex.org/W2510999763","https://openalex.org/W1971503858","https://openalex.org/W7160094255","https://openalex.org/W2747452611","https://openalex.org/W2086093748","https://openalex.org/W2125052969"],"abstract_inverted_index":{"Mulibrey":[0,36],"nanism":[1,37,187],"is":[2,38,207],"a":[3,109],"rare":[4,47],"autosomal":[5],"recessive":[6],"growth":[7],"disorder":[8],"with":[9,25,78,193,211],"prenatal":[10],"onset,":[11],"including":[12],"occasional":[13],"progressive":[14],"cardiopathy,":[15],"characteristic":[16],"facial":[17],"features,":[18],"failure":[19],"of":[20,52,85,98,141,167,171,178,184,189],"sexual":[21],"maturation,":[22],"insulin":[23],"resistance":[24],"type":[26],"2":[27],"diabetes,":[28],"and":[29,44,122,147,188],"an":[30],"increased":[31],"risk":[32],"for":[33,156,196,204,209],"Wilms'":[34,86,205],"tumor.":[35],"prevalent":[39],"in":[40,81,102,127,182],"the":[41,61,74,83,89,96,117,123,128,138,145,148,158,165,168,176,198],"Finnish":[42],"population":[43],"appears":[45],"extremely":[46],"elsewhere.":[48],"However,":[49],"cases":[50,183],"outside":[51],"Finland":[53],"may":[54,163],"be":[55,154],"underdiagnosed":[56],"or":[57,63],"misdiagnosed":[58],"as":[59],"having":[60],"3-M":[62],"Silver-Russell":[64],"syndrome,":[65],"two":[66,99],"important":[67,155],"differential":[68],"diagnostic":[69],"disorders.":[70],"Here,":[71],"we":[72],"report":[73],"first":[75],"Australian":[76],"patient":[77],"mulibrey":[79,186,212],"nanism,":[80],"whom":[82],"occurrence":[84],"tumor":[87,129,206],"suggested":[88],"correct":[90],"diagnosis.":[91],"This":[92],"was":[93],"confirmed":[94],"by":[95],"identification":[97],"novel":[100,191],"mutations":[101,162,192],"tripartite":[103],"motif":[104],"protein":[105],"37":[106],"(TRIM37)":[107],"encoding":[108],"RING":[110],"finger":[111],"ubiquitin":[112],"E3":[113],"ligase.":[114],"Both":[115],"mutations,":[116],"p.Cys109Ser":[118],"B-box":[119,146],"missense":[120],"mutation":[121],"p.Glu271_Ser287del":[124],"in-frame":[125],"deletion":[126],"necrosis":[130],"factor":[131,134],"receptor":[132],"associated":[133],"(TRAF)":[135],"domain":[136],"alter":[137],"subcellular":[139],"localization":[140],"TRIM37.":[142,172],"As":[143],"both":[144],"TRAF":[149],"domains":[150],"are":[151],"predicted":[152],"to":[153],"mediating":[157],"protein-protein":[159],"interactions,":[160],"these":[161],"help":[164],"understanding":[166],"cellular":[169],"interactions":[170],"Our":[173],"findings":[174],"imply":[175],"importance":[177],"early":[179],"molecular":[180,200],"diagnostics":[181],"suspected":[185],"identifying":[190],"potential":[194],"relevance":[195],"unraveling":[197],"underlying":[199],"pathology.":[201],"Ultrasound":[202],"surveillance":[203],"recommended":[208],"children":[210],"nanism.":[213]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}
