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The disease manifests as agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. The constellation of clinical signs seen in this family likely represents a new and recognizable form of agammaglobulinemia due to a defect in early B\u2010cell maturation. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31275","type":"journal-article","created":{"date-parts":[[2006,5,12]],"date-time":"2006-05-12T07:05:14Z","timestamp":1147417514000},"page":"1131-1135","source":"Crossref","is-referenced-by-count":1,"title":["A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features"],"prefix":"10.1002","volume":"140A","author":[{"given":"Yanick Joseph","family":"Crow","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.A.","family":"Goodship","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Wright","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.M.","family":"Coady","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.E.","family":"Conley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.R.","family":"Gennery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,5,11]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001106)95:1<17::AID-AJMG5>3.0.CO;2-M"},{"key":"e_1_2_4_3_1","first-page":"609","article-title":"X\u2010linked agammaglobulinemia and isolated growth hormone deficiency","volume":"40","author":"Arslan D","year":"1998","journal-title":"Turk J Pediatr"},{"key":"e_1_2_4_4_1","first-page":"A89","article-title":"Further clinical and molecular studies for patients with the syndrome of Say et al. 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