{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T04:51:21Z","timestamp":1783745481341,"version":"3.55.0"},"reference-count":25,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,11,1]],"date-time":"2002-11-01T00:00:00Z","timestamp":1036108800000},"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":[[2003,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe three siblings with congenital myopathy, bullous eruption of the skin, secretory diarrhea, apparent zinc deficiency, failure to thrive, deafness, and microcephaly. The parents are not consanguineous and there are no other affected relatives. This new syndrome, which follows an apparent autosomal recessive pattern, appears to be distinct from known syndromes of secretory diarrhea, myopathy, deafness, microcephaly, and zinc deficiency. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10072","type":"journal-article","created":{"date-parts":[[2002,12,11]],"date-time":"2002-12-11T13:56:05Z","timestamp":1039614965000},"page":"20-25","source":"Crossref","is-referenced-by-count":5,"title":["Congenital myopathy, recurrent secretory diarrhea, bullous eruption of skin, microcephaly, and deafness: A new genetic syndrome?"],"prefix":"10.1002","volume":"116A","author":[{"given":"J.","family":"Levy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Garzon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.P.","family":"Gallagher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.E.","family":"Oberfield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Lieber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Anyane\u2010Yeboa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199701093360205"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(85)92369-4"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI119028"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(45)80079-3"},{"key":"e_1_2_5_6_1","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1001\/archderm.1989.01670190065007","article-title":"Autosomal recessive epidermolysis bullosa simplex: generalized phenotypic features suggestive of junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases","volume":"125","author":"Fine JD","year":"1989","journal-title":"Arch Dermatol"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(45)80078-1"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(94)70118-0"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-78-6-876"},{"key":"e_1_2_5_10_1","first-page":"747","article-title":"Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea","volume":"55","author":"Hoglund P","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-316"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(85)80465-0"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/301873"},{"key":"e_1_2_5_14_1","doi-asserted-by":"crossref","first-page":"2609","DOI":"10.1093\/ajcn\/33.12.2609","article-title":"Serum alkaline phosphatase after treatment of zinc deficiency in humans","volume":"33","author":"Kasarkis EJ","year":"1980","journal-title":"Am J Clin Nutr"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/jn\/120.suppl_11.1474"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0284"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.10.14.1724"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(74)91772-3"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI2350"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1971.tb00276.x"},{"key":"e_1_2_5_21_1","first-page":"1","article-title":"Kidney biopsy findings in familial chloride diarrhea","volume":"55","author":"Pasternack A","year":"1977","journal-title":"Acta Endocrinol"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(86)80769-7"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.10.1539"},{"key":"e_1_2_5_24_1","first-page":"155","article-title":"Diagnosis of zinc deficiency","volume":"32","author":"Roth HP","year":"1999","journal-title":"Z Gerontol Geriatr"},{"key":"e_1_2_5_25_1","first-page":"196","article-title":"A constitutively open potassium channel formed by KCNQI and KCNE3","volume":"13","author":"Schroeder BC","year":"2000","journal-title":"Nat Genet"},{"key":"e_1_2_5_26_1","doi-asserted-by":"crossref","first-page":"1214","DOI":"10.1093\/ajcn\/41.6.1214","article-title":"Serum alkaline phosphatase and serum zinc levels in the diagnosis and exclusion of zinc deficiency in man","volume":"41","author":"Weisman K","year":"1985","journal-title":"Am J Clin Nutr"}],"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.10072","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.10072","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T20:34:53Z","timestamp":1697229293000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.10072"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,11]]},"references-count":25,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,1]]}},"alternative-id":["10.1002\/ajmg.a.10072"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.10072","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,11]]}}}