Nature

Phenotypic and molecular characterisation of the Aarskog–Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients

Faciogenital dysplasia or Aarskog–Scott syndrome (AAS) is a genetically heterogeneous developmental disorder. The X-linked form of AAS has been ascribed to mutations in the FGD1 gene. However, ...
Nature

Clinical utility gene card for: Aarskog–Scott Syndrome (faciogenital dysplasia) – update 2015

Variation locations are based on the following accessions: NCBI Reference Sequence: NC_000023.11, NG_008054.1, NM_004463.2, NP_004454.2. UniProtKB/Swiss-Prot: FGD1 ...