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Am J Med Genet A. 2005 May 15;135(1):72-4.

Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene.

Author information

  • 1Department of Pediatrics, Federico II University, Via S. Pansini 5, I-80131 Naples, Italy. franzese@unina.it

Erratum in

  • Am J Med Genet A. 2005 Aug 15;137(1):115. Spagnuolo, Maria Immacolata [added]; Giugliano, Michela [added].

Abstract

Mutations in DAX-1 gene cause congenital adrenal hypoplasia (AHC). We present a male patient affected by X-linked adrenal hypoplasia congenita due to a novel DAX-1 missense mutation. The mutation V287G affects the C-terminal end of the DAX-1 protein which plays an important role in functioning of the receptor. In addition, our patient presented an inappropriate tall stature and renal ectopy, which have not been described in AHC so far.

(c) 2005 Wiley-Liss, Inc.

PMID:
15800903
[PubMed - indexed for MEDLINE]
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