present in Gene: FGD1
present in Chromosome: X
Position on Chromosome: 54467796
Alleles of this Variant: C/A;T
rs137853266 in
FGD1 gene and
Dysmorphic features
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 16353258 2006 Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.
PMID 11940089 2002 Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.
PMID 15809997 2005 Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).
PMID 16688726 2006 Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.
PMID 17152066 2007 Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.
PMID 20082460 2010 Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
PMID 22211847 2012 Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.
PMID 24307393 2014 Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.
PMID 19110080 2009 First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.
PMID 8969170 1996 The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor.