{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T13:05:58Z","timestamp":1774962358329,"version":"3.50.1"},"reference-count":9,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2010,3,26]],"date-time":"2010-03-26T00:00:00Z","timestamp":1269561600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Craniometaphyseal dysplasia (CMD) is a rare, sclerosing skeletal disorder caused by mutations in <jats:italic>ANKH<\/jats:italic>, which encodes a putative pyrophosphate transporting membrane protein. Six distinct <jats:italic>ANKH<\/jats:italic> mutations have been described to date. We report here on three novel mutations in simplex patients with CMD. The c.1015T&gt;C (p.Cys339Arg) mutation found in Patient A was associated with congenital facial palsy, early\u2010onset conductive hearing loss, and a generalized undermodeling of the long bones. The c.1172T&gt;C (p.Leu391Pro) mutation in Patient B was associated with facial palsy, progressive conductive hearing loss, and generalized undermodeling of tubular bones. A milder phenotype without cranial nerve affection was observed in Patient C, associated with a c.1001T&gt;G (p.Leu334Arg) mutation. All affected residues lie in evolutionarily conserved sequence blocks. These additional cases and the associated mutations contribute to an improved appreciation of the variability of this rare skeletal dysplasia. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33301","type":"journal-article","created":{"date-parts":[[2010,3,26]],"date-time":"2010-03-26T18:19:20Z","timestamp":1269627560000},"page":"870-874","source":"Crossref","is-referenced-by-count":18,"title":["Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss"],"prefix":"10.1002","volume":"152A","author":[{"given":"Uwe","family":"Kornak","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Brancati","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Le Merrer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Klaske","family":"Lichtenbelt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"H\u00f6hne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sigrid","family":"Tinschert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco Giuseppe","family":"Garaci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"N\u00fcrnberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,3,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00976.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.090218"},{"key":"e_1_2_6_4_1","first-page":"79","article-title":"Genetic craniotubular bone dysplasias and hyperostoses: Critical analysis","volume":"5","author":"Gorlin RJ","year":"1969","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/509881"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001218)95:5<482::AID-AJMG14>3.0.CO;2-X"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0501-37"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/320612"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1673.1989.tb03242.x"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980518)77:3<175::AID-AJMG1>3.0.CO;2-P"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33301","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33301","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T14:22:07Z","timestamp":1697638927000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33301"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,3,26]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010,4]]}},"alternative-id":["10.1002\/ajmg.a.33301"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33301","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,3,26]]}}}