{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,21]],"date-time":"2025-09-21T18:12:15Z","timestamp":1758478335796},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5999,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1989,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Most patients with dyskeratosis congenita [DC or Zinsser\u2010Cole\u2010Engman syndrome] are males hemizygous for an X\u2010linked recessive mutation. However, one or more autosomal form(s) of DC may exist. We have studied a 6\u2010year\u2010old black girl with the characteristic triad of nail dystrophy, cutaneous and mucosal pigmentary changes, and bone marrow failure. Severe microcephaly, mental retardation, cerebellar hypoplasia, and purple discoloration of the tongue were other manifestations not usually seen in DC. Comparison of our patient's phenotype with that of 5 other sporadic and 10 familial cases of DC in females showed that the autosomal and X\u2010linked phenotypes are not distinguishable in the absence of a suggestive pedigree pattern. Additional cases of DC need to be studied to better elucidate the apparent causal heterogeneity in this syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320320114","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:26:04Z","timestamp":1118546764000},"page":"63-66","source":"Crossref","is-referenced-by-count":21,"title":["Etiologic heterogeneity in dyskeratosis congenita"],"prefix":"10.1002","volume":"32","author":[{"given":"G. Shashidhar","family":"Pai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carl","family":"Whetsell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.5694\/j.1326-5377.1965.tb72218.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00290963"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1956.01550020023004"},{"key":"e_1_2_1_5_1","first-page":"22A","article-title":"Hypersensitivity. to X\u2010irradiation\u2010induced G2 chromatid damage in dyskeratosis congenita","volume":"43","author":"DeBauche DM","year":"1988","journal-title":"Am J Hum Genet (abstract)"},{"key":"e_1_2_1_6_1","first-page":"15","article-title":"Syndrome de Zinsser\u2010Cole\u2010Engman (Zinsser\u2010Fanconi)","volume":"76","author":"Degos R","year":"1969","journal-title":"Bull Soc Fr Dermatol Syphilogr"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000212345"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-0960.1965.tb01368.x"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0609.1987.tb00774.x"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"1424","DOI":"10.1001\/archderm.1985.01660110072019","article-title":"Dyskeratosis congenita in a girl simulating chronic graft\u2010vs\u2010host disease","volume":"121","author":"Ling NS","year":"1985","journal-title":"Arch Dermatol"},{"key":"e_1_2_1_11_1","first-page":"383","article-title":"Sur un cas de syndrome de Zinsser\u2010Engman\u2010Cole","volume":"73","author":"Rollier MB","year":"1966","journal-title":"Bull Soc Fr Dermatol Syphilogr"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.12.4.339"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1963.01590210098015"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(82)80100-X"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320320114","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320320114","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T02:38:13Z","timestamp":1697942293000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320320114"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1989,1]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1989,1]]}},"alternative-id":["10.1002\/ajmg.1320320114"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320320114","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1989,1]]}}}