Condition: Aarskog syndrome


rs137853264 in FGD1 gene and Aarskog syndrome PMID 21654724 2011 Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).

PMID 10930571 2000 A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).

PMID 14560308 2004 Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.

PMID 11093277 2000 Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.