{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T04:54:57Z","timestamp":1783486497291,"version":"3.55.0"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,7,18]],"date-time":"2003-07-18T00:00:00Z","timestamp":1058486400000},"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":[[2003,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on two sibs (of 4) with a syndrome of minor facial anomalies, proportionate IUGR, neonatal non\u2010autoimmune diabetes mellitus (NDM), severe congenital hypothyroidism (CH), cholestasis, congenital glaucoma, and polycystic kidneys. Liver disease progressed to hepatic fibrosis. The renal disease was characterized by large kidneys and multiple small cysts with deficient corticomedullary junction differentiation and normal kidney function. The phenotype observed in the two sibs was identical. Although a combination of liver, kidney, and pancreatic involvement has been described in Ivemark syndrome (hepato\u2010renal\u2010pancreatic syndrome), the coexistence of NDM, CH, and glaucoma in both sibs suggests the possibility that this combination of manifestations describes a new autosomal recessive syndrome. Mutation analysis for several candidate genes is warranted. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20267","type":"journal-article","created":{"date-parts":[[2003,9,5]],"date-time":"2003-09-05T14:43:14Z","timestamp":1062772994000},"page":"269-273","source":"Crossref","is-referenced-by-count":62,"title":["Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: A new autosomal recessive syndrome?"],"prefix":"10.1002","volume":"122A","author":[{"given":"Doris","family":"Taha","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maha","family":"Barbar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hassan","family":"Kanaan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Williamson Balfe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,7,18]]},"reference":[{"key":"e_1_2_3_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.8.1199"},{"key":"e_1_2_3_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199804093381503"},{"key":"e_1_2_3_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/301725"},{"key":"e_1_2_3_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260218"},{"key":"e_1_2_3_6_1","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1136\/jmg.8.3.257","article-title":"Polycystic disease of kidneys and liver presenting in childhood","volume":"8","author":"Blyth H","year":"1971","journal-title":"J Med Genet"},{"key":"e_1_2_3_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000152978"},{"key":"e_1_2_3_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00496429"},{"key":"e_1_2_3_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb02099.x"},{"key":"e_1_2_3_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001211)95:4<399::AID-AJMG19>3.0.CO;2-9"},{"key":"e_1_2_3_11_1","first-page":"1","article-title":"Familial dysplasia of kidneys, liver, and pancreas. A probably genetically determined syndrome","volume":"48","author":"Ivemark BI","year":"1959","journal-title":"Acta Paediatr Scand"},{"key":"e_1_2_3_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290323"},{"key":"e_1_2_3_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050540"},{"key":"e_1_2_3_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02002909"},{"key":"e_1_2_3_15_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513819209023298"},{"key":"e_1_2_3_16_1","first-page":"113","article-title":"Association of bilateral renal dysplasia and congenital hepatic fibrosis","volume":"7","author":"Proesmans W","year":"1986","journal-title":"Int J Pediatr Nephrol"},{"key":"e_1_2_3_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441137"},{"key":"e_1_2_3_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.4.641"},{"key":"e_1_2_3_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng833"},{"key":"e_1_2_3_20_1","doi-asserted-by":"publisher","DOI":"10.3109\/00313028509084771"},{"key":"e_1_2_3_21_1","first-page":"845","article-title":"Bilateral renal dysplasia accompanied by pancreatic fibrosis, meconium ileus, and situs inversus totalis","volume":"31","author":"Yoshikawa Y","year":"1981","journal-title":"Act Pathol Jpn"},{"key":"e_1_2_3_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00279301"},{"key":"e_1_2_3_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980305)76:2<137::AID-AJMG6>3.0.CO;2-Q"}],"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.20267","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20267","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,16]],"date-time":"2023-11-16T20:08:31Z","timestamp":1700165311000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20267"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,7,18]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,10,15]]}},"alternative-id":["10.1002\/ajmg.a.20267"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20267","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,7,18]]}}}