{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T17:05:21Z","timestamp":1758819921913},"reference-count":18,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,10,20]],"date-time":"2004-10-20T00:00:00Z","timestamp":1098230400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2004,12]]},"abstract":"<jats:p>A family with an unusual combination of B\u2010cell immunodeficiency, distal limb abnormalities, genitourinary malformations, and mild dysmorphic features has recently been described. Here, we report a second family with similar features, which also shows autosomal dominant inheritance. In affected individuals from both families, sequence analysis of candidate gene <jats:italic>HOXA13<\/jats:italic> did not identify a mutation, and there was no evidence of a microdeletion involving either <jats:italic>HOXA13<\/jats:italic> or the <jats:italic>HOXA<\/jats:italic> cluster as a whole. We further delineate the phenotype of this condition in females and add weight to the observation that this is a true syndromic association.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2004.00349.x","type":"journal-article","created":{"date-parts":[[2004,12,22]],"date-time":"2004-12-22T00:25:13Z","timestamp":1103675113000},"page":"550-555","source":"Crossref","is-referenced-by-count":5,"title":["Autosomal dominant B\u2010cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) \u2013 report of a second family"],"prefix":"10.1111","volume":"66","author":[{"given":"M","family":"Tischkowitz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Goodman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Koliou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Webster","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Edery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LC","family":"Wilson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,11]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.7.488"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0297-179"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1086\/302961"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440419"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V89.6.1922"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj\/leu\/2401562"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.8.2286"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961230)66:4<378::AID-AJMG2>3.0.CO;2-H"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(74)80601-3"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.55.5.331"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.1.56"},{"issue":"6","key":"e_1_2_6_13_2","first-page":"103","article-title":"Short stature, absent thumbs, flat facies, anosmia and combined immune deficiency (CID)","volume":"14","author":"Shokeir MH","year":"1978","journal-title":"Birth Defects Orig Artic Series"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198006263022601"},{"issue":"2","key":"e_1_2_6_15_2","first-page":"368","article-title":"Another disorder with prenatal shortness of stature and premature aging","volume":"11","author":"Mulvihill JJ","year":"1975","journal-title":"Birth Defects Orig Artic Series"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1979.tb04974.x"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1980.tb07044.x"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02072232"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1086\/302011"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2004.00349.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2004.00349.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,13]],"date-time":"2023-10-13T18:02:51Z","timestamp":1697220171000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2004.00349.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,11]]},"references-count":18,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2004,12]]}},"alternative-id":["10.1111\/j.1399-0004.2004.00349.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2004.00349.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,11]]}}}