Publication | Open Access

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

Aarskog–scott SyndromeMolecular CharacterisationMendelian DisorderGenetic DisorderMedicineGeneticsGenetic EpidemiologyFgd1 Mutation AnalysisPathologyDisease Gene IdentificationPublic HealthMonogenic DisordersClinical Genetics