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Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene

✍ Scribed by Stavit A. Shalev; Elana Chervinski; Ehud Weiner; Galia Mazor; Michael J. Friez; Charles E. Schwartz

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 103 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31033

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✦ Synopsis

Abstract

The clinical diagnosis of ASS (Aarskog–Scott syndrome or Faciogenital Dysplasia) was made in seven individuals belonging to a large Arabic family, which was supported by molecular studies revealing a 2189delA mutation in exon 15 of the FDG1 gene. The affected individuals in this family demonstrated clinical variability particularly in their cognitive skills, raising the question whether other genetic factors might be involved in the phenotypic evolution of ASS. © 2005 Wiley‐Liss, Inc.

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