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

Authors: Shalev, SA  Chervinski, E  Weiner, E  Mazor, G  Friez, MJ  Schwartz, CE 
Citation: Shalev SA, etal., Am J Med Genet A. 2006 Jan 15;140(2):162-5.
Pubmed: (View Article at PubMed) PMID:16353258
DOI: Full-text: DOI:10.1002/ajmg.a.31033

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.


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CRRD Object Information
CRRD ID: 11554031
Created: 2016-10-19
Species: All species
Last Modified: 2016-10-19
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.