{"id":"https://openalex.org/W1983643237","doi":"https://doi.org/10.1002/ajmg.b.30492","title":"Acrodysostosis with unusual iridal color changing with age","display_name":"Acrodysostosis with unusual iridal color changing with age","publication_year":2007,"publication_date":"2007-04-17","ids":{"openalex":"https://openalex.org/W1983643237","doi":"https://doi.org/10.1002/ajmg.b.30492","mag":"1983643237","pmid":"https://pubmed.ncbi.nlm.nih.gov/17440934"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.b.30492","doi":"https://doi.org/10.1002/ajmg.b.30492","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.b.30492","pdf_url":null,"source":{"id":"https://openalex.org/S2764647521","display_name":"American Journal of Medical Genetics Part B Neuropsychiatric Genetics","issn_l":"1552-4841","issn":["1552-4841","1552-485X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","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":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","raw_type":"journal-article"},"volume":null,"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/A5085525518","display_name":"Eiji Nii","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Eiji Nii","raw_affiliation_strings":["Department of Orthopedic Surgery, Mie Prefectural Kusanomi Rehabilitation Center, Tsu, Japan. niie00@pref.mie.jp","Department of Orthopedic Surgery, Mie Prefectural Kusanomi Rehabilitation Center, Tsu, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic Surgery, Mie Prefectural Kusanomi Rehabilitation Center, Tsu, Japan. niie00@pref.mie.jp","institution_ids":[]},{"raw_affiliation_string":"Department of Orthopedic Surgery, Mie Prefectural Kusanomi Rehabilitation Center, Tsu, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069385183","display_name":"Masao Urawa","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Masao Urawa","raw_affiliation_strings":["Department of Orthopedic Surgery, Mie Prefectural Kusanomi Rehabilitation Center, Tsu, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic Surgery, Mie Prefectural Kusanomi Rehabilitation Center, Tsu, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080363010","display_name":"Toshiko Nshimura","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Toshiko Nshimura","raw_affiliation_strings":["Department of Orthopedic Surgery, Mie Prefectural Kusanomi Rehabilitation Center, Tsu, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic Surgery, Mie Prefectural Kusanomi Rehabilitation Center, Tsu, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067918337","display_name":"Hiroshi Kitou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210090647","display_name":"Nagoya University Hospital","ror":"https://ror.org/008zz8m46","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210090647"]},{"id":"https://openalex.org/I60134161","display_name":"Nagoya University","ror":"https://ror.org/04chrp450","country_code":"JP","type":"education","lineage":["https://openalex.org/I60134161"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hiroshi Kitou","raw_affiliation_strings":["Department of Orthopedic Surgery, Nagoya University School of Medicine, Nagoya, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic Surgery, Nagoya University School of Medicine, Nagoya, Japan","institution_ids":["https://openalex.org/I4210090647","https://openalex.org/I60134161"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015693631","display_name":"Shiro Ikegawa","orcid":"https://orcid.org/0000-0003-0316-2147","observed_orcids":["https://orcid.org/0000-0003-0316-2147"]},"institutions":[{"id":"https://openalex.org/I4210110652","display_name":"RIKEN","ror":"https://ror.org/01sjwvz98","country_code":"JP","type":"facility","lineage":["https://openalex.org/I4210110652"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Shiro Ikegawa","raw_affiliation_strings":["Laboratory for Bone and Joint Diseases, SNP Research Center RIKEN, Yokohama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory for Bone and Joint Diseases, SNP Research Center RIKEN, Yokohama, Japan","institution_ids":["https://openalex.org/I4210110652"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109958036","display_name":"Shin Shimizu","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Shin Shimizu","raw_affiliation_strings":["Kouzudai Pediatric Clinic, Tsu, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Kouzudai Pediatric Clinic, Tsu, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035862763","display_name":"Hiroshi Taneda","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Hiroshi Taneda","raw_affiliation_strings":["Taneda Kids Clinic, Yokkaichi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Taneda Kids Clinic, Yokkaichi, Japan","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110392565","display_name":"Atsumasa Uchida","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I178574317","display_name":"Mie University","ror":"https://ror.org/01529vy56","country_code":"JP","type":"education","lineage":["https://openalex.org/I178574317"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Atsumasa Uchida","raw_affiliation_strings":["Department of Orthopedic Surgery, Mie University School of Medicine, Tsu, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic Surgery, Mie University School of Medicine, Tsu, Japan","institution_ids":["https://openalex.org/I178574317"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113765382","display_name":"Norio Niikawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210086780","display_name":"Japan Science and Technology Agency","ror":"https://ror.org/00097mb19","country_code":"JP","type":"government","lineage":["https://openalex.org/I1319490839","https://openalex.org/I4210086780"]},{"id":"https://openalex.org/I43777268","display_name":"Nagasaki University","ror":"https://ror.org/058h74p94","country_code":"JP","type":"education","lineage":["https://openalex.org/I43777268"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Norio Niikawa","raw_affiliation_strings":["Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan","Solution Oriented Research for Science and Technology (SORST), Japan Science and Technology Agency (JST), Kawaguchi, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan","institution_ids":["https://openalex.org/I43777268"]},{"raw_affiliation_string":"Solution Oriented Research for Science and Technology (SORST), Japan Science and Technology Agency (JST), Kawaguchi, Japan","institution_ids":["https://openalex.org/I4210086780"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5085525518"],"corresponding_institution_ids":[],"apc_list":{"value":3920,"currency":"USD","value_usd":3920},"apc_paid":null,"fwci":0.1412,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.48845129,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":93,"max":95},"biblio":{"volume":"144B","issue":"6","first_page":"824","last_page":"825"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.28200000524520874,"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":0.28200000524520874,"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/T11310","display_name":"Connective tissue disorders research","score":0.2045000046491623,"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/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.11620000004768372,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/acrodysostosis","display_name":"acrodysostosis","score":1.0},{"id":"https://openalex.org/keywords/iris-color","display_name":"iris color","score":0.699999988079071},{"id":"https://openalex.org/keywords/iris-pigmentation","display_name":"iris pigmentation","score":0.921999990940094},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.6579999923706055},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.8019999861717224},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.44699999690055847}],"concepts":[{"id":"https://openalex.org/C2778047097","wikidata":"https://www.wikidata.org/wiki/Q3031","display_name":"Girl","level":2,"score":0.7431414127349854},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5445359945297241},{"id":"https://openalex.org/C2779503344","wikidata":"https://www.wikidata.org/wiki/Q5973514","display_name":"IRIS (biosensor)","level":3,"score":0.5381708145141602},{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.49618133902549744},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.35116657614707947},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.26417961716651917},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.159918874502182},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.12404152750968933},{"id":"https://openalex.org/C184297639","wikidata":"https://www.wikidata.org/wiki/Q177765","display_name":"Biometrics","level":2,"score":0.0},{"id":"https://openalex.org/C38652104","wikidata":"https://www.wikidata.org/wiki/Q3510521","display_name":"Computer security","level":1,"score":0.0},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004413","descriptor_name":"Dysostoses","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005127","descriptor_name":"Eye Color","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":"D006228","descriptor_name":"Hand Deformities, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.b.30492","doi":"https://doi.org/10.1002/ajmg.b.30492","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.b.30492","pdf_url":null,"source":{"id":"https://openalex.org/S2764647521","display_name":"American Journal of Medical Genetics Part B Neuropsychiatric Genetics","issn_l":"1552-4841","issn":["1552-4841","1552-485X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","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":"American Journal of Medical Genetics Part B: Neuropsychiatric Genetics","raw_type":"journal-article"},{"id":"pmid:17440934","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/17440934","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 B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9391000270843506}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":10,"referenced_works":["https://openalex.org/W1982727527","https://openalex.org/W2054872148","https://openalex.org/W2062393877","https://openalex.org/W2077866774","https://openalex.org/W2087778321","https://openalex.org/W2100944866","https://openalex.org/W2155609819","https://openalex.org/W2204163557","https://openalex.org/W2413643364","https://openalex.org/W2466564011"],"related_works":["https://openalex.org/W4254198772","https://openalex.org/W2179285756","https://openalex.org/W2062393877","https://openalex.org/W2100944866","https://openalex.org/W2926120866","https://openalex.org/W2415896727","https://openalex.org/W2087778321","https://openalex.org/W4406568702","https://openalex.org/W2804340625","https://openalex.org/W2077866774"],"abstract_inverted_index":{"Acrodysostosis":[0],"is":[1,39,45,140],"a":[2,13,59,98,112,119,150],"rare":[3],"congenital":[4],"anomaly":[5],"syndrome":[6],"characterized":[7],"by":[8,84],"peculiar":[9],"facial":[10],"appearance":[11],"with":[12,27,67,101,109,115,124,137],"small":[14],"nose":[15],"and":[16,24,32,104,118],"an":[17,48],"open":[18],"mouth,":[19],"short":[20,22],"stature,":[21],"metacarpotarsal,":[23],"phalangeal":[25],"bones":[26,157],"cone-shaped":[28],"epiphyses,":[29],"advanced":[30],"bone-age,":[31],"variable":[33],"degrees":[34],"of":[35,73,129,156],"mental":[36],"retardation.":[37],"It":[38,139],"most":[40],"likely":[41,141],"that":[42,142],"the":[43,143],"disease":[44],"inherited":[46],"in":[47,78,132,154,160],"autosomal":[49],"dominant":[50],"mode,":[51],"its":[52],"pathogenesis":[53],"has":[54],"remained":[55],"unknown.":[56],"We":[57],"report":[58],"4-year-old":[60,120],"Japanese":[61,90],"girl":[62,114,121],"who":[63],"suffered":[64],"from":[65],"acrodysostosis":[66,133,147],"unusual":[68],"iridal":[69],"color.":[70],"The":[71,127],"color":[72],"patient's":[74],"irides":[75,103],"was":[76],"gray-bluish":[77],"her":[79],"infancy":[80],"but":[81,158],"became":[82],"light-brownish":[83],"age":[85],"4":[86],"years.":[87],"Of":[88],"eight":[89],"patients":[91,134],"reported,":[92],"four":[93],"had":[94],"abnormal":[95],"eye":[96],"color:":[97],"7-month-old":[99],"boy":[100],"blue":[102],"his":[105],"2-year-old":[106],"elder":[107],"sister":[108],"light-blue":[110],"eyes":[111],"6-year-old":[113],"gray-brownish":[116],"irides,":[117],"(present":[122],"case)":[123],"blue-brownish":[125],"irides.":[126],"degree":[128],"iris":[130,161],"pigmentation":[131],"may":[135],"change":[136],"age.":[138],"putative":[144],"gene":[145],"for":[146],"might":[148],"play":[149],"role":[151],"not":[152],"only":[153],"remodeling":[155],"also":[159],"pigmentation.":[162]},"counts_by_year":[{"year":2014,"cited_by_count":2}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}
