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Lookup NU author(s): Professor Judith Goodship,
Dr Christopher Wright,
Professor Andrew GenneryORCiD
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We present a novel, likely autosomal recessive, multi-system disorder seen in three siblings, two males and one female, born to nonconsanguineous parents. 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-cell maturation. © 2006 Wiley-Liss, Inc.
Author(s): Crow YJ, Goodship JA, Wright C, Coady AM, Conley ME, Gennery AR
Publication type: Article
Publication status: Published
Journal: American Journal of Medical Genetics Part A
ISSN (print): 1552-4825
ISSN (electronic): 1552-4833
Publisher: John Wiley & Sons, Inc.
PubMed id: 16691627
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