{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T19:53:16Z","timestamp":1771530796173,"version":"3.50.1"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,11,18]],"date-time":"2004-11-18T00:00:00Z","timestamp":1100736000000},"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":[[2005,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Oculo\u2010dento\u2010digital dysplasia (ODDD, OMIM no. 164210) is a pleiotropic disorder characterized mainly by ocular anomalies, varying degrees of finger and toe syndactyly, and enamel defects. It is caused by missense mutations in the gene coding for the gap junction protein connexin 43 or GJA1. Other types of mutations have so far not been reported. Here we describe a Dutch kindred with ODDD showing a new symptom, palmoplantar keratoderma, and associated with a novel 2\u2010bp deletion mutation of <jats:italic>GJA1<\/jats:italic>. The dinucleotide deletion 780_781delTG is located in the cytoplasmic C\u2010terminal loop and leads to a frameshift. This is predicted to lead to the production of a slightly truncated protein with 46 incorrect amino acids in the C\u2010terminal cytoplasmic loop (C260fsX307). This novel mutation may explain the presence of skin symptoms. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30412","type":"journal-article","created":{"date-parts":[[2004,11,19]],"date-time":"2004-11-19T01:17:32Z","timestamp":1100827052000},"page":"171-174","source":"Crossref","is-referenced-by-count":70,"title":["A 2\u2010bp deletion in the <i>GJA1<\/i> gene is associated with oculo\u2010dento\u2010digital dysplasia with palmoplantar keratoderma"],"prefix":"10.1002","volume":"132A","author":[{"given":"M.A.M.","family":"van Steensel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Spruijt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"van der Burgt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.S.","family":"Bladergroen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Vermeer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.M.","family":"Steijlen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"van Geel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,11,18]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"694","article-title":"Hair dysplasia in oculo\u2010dento\u2010digital syndrome. Apropos of a mother\u2010daughter case","volume":"121","author":"Adamski H","year":"1994","journal-title":"Ann Dermatol Venereol"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/9780470515587.ch4"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320410106"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20614"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004150200068"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1471-4159.2000.740711.x"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.3109\/15419060109080731"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg076"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/346090"},{"key":"e_1_2_4_11_1","doi-asserted-by":"crossref","first-page":"2105","DOI":"10.1242\/jcs.114.11.2105","article-title":"Trans\u2010dominant inhibition of connexin\u201043 by mutant connexin\u201026: Implications for dominant connexin disorders affecting epidermal differentiation","volume":"114","author":"Rouan F","year":"2001","journal-title":"J Cell Sci"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0560.1997.tb01094.x"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/01202412-199801000-00003"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1747.2002.01735.x"}],"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.30412","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30412","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T16:20:10Z","timestamp":1697646010000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30412"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11,18]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,1,15]]}},"alternative-id":["10.1002\/ajmg.a.30412"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30412","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,11,18]]}}}