{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,11]],"date-time":"2026-04-11T17:13:11Z","timestamp":1775927591523,"version":"3.50.1"},"reference-count":6,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,12,24]],"date-time":"2020-12-24T00:00:00Z","timestamp":1608768000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Carpenter syndrome (acrocephalopolysyndactyly type II) is a rare autosomal recessive disorder. It was clinically diagnosed in a female baby with polysyndactyly and craniosynostosis in a referral clinic in Northern Tanzania. In the <jats:italic>RAB23<\/jats:italic> gene, a previously described homozygous variant c.82C&gt;T p.(Arg28*) was detected that results in a premature stop codon. Both parents were demonstrated to be heterozygous carriers of this variant. Herewith, its pathogenicity is proved. A literature search suggests this is the first molecularly confirmed case of Carpenter syndrome in continental Africa.<\/jats:p>","DOI":"10.1002\/ajmg.a.62015","type":"journal-article","created":{"date-parts":[[2020,12,25]],"date-time":"2020-12-25T09:48:33Z","timestamp":1608889713000},"page":"986-989","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Carpenter syndrome in a patient from Tanzania"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3373-5762","authenticated-orcid":false,"given":"Jay","family":"Lodhia","sequence":"first","affiliation":[{"name":"Department of General Surgery Kilimanjaro Christian Medical Centre  Moshi Tanzania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iago","family":"Rego\u2010Garcia","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Kilimanjaro Christian Medical Centre  Moshi Tanzania"},{"name":"Unit of Neurology Hospital Universitario Virgen de las Nieves  Granada Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sengua","family":"Koipapi","sequence":"additional","affiliation":[{"name":"Department of General Surgery Kilimanjaro Christian Medical Centre  Moshi Tanzania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adnan","family":"Sadiq","sequence":"additional","affiliation":[{"name":"Department of Radiology Kilimanjaro Christian Medical Centre  Moshi Tanzania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Msuya","sequence":"additional","affiliation":[{"name":"Department of General Surgery Kilimanjaro Christian Medical Centre  Moshi Tanzania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ResieVervenne\u2010van","family":"Spaendonk","sequence":"additional","affiliation":[{"name":"Department of Genome Diagnostics VU University Medical Center (VUMC)  Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ben","family":"Hamel","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center  Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4488-8198","authenticated-orcid":false,"given":"Marieke","family":"Dekker","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine Kilimanjaro Christian Medical Centre  Moshi Tanzania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,12,24]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33327"},{"key":"e_1_2_9_3_1","first-page":"185","article-title":"Carpenter syndrome: Report of two siblings","volume":"7","author":"Islek I.","year":"1996","journal-title":"Clinical Dysmorphology"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21457"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/518047"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0000000000001121"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.027"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62015","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62015","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62015","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T07:39:32Z","timestamp":1693640372000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62015"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,24]]},"references-count":6,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["10.1002\/ajmg.a.62015"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62015","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,12,24]]},"assertion":[{"value":"2020-09-06","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-12-24","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}