FGD1

Publications

Zanetti Drumond V et al. The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review. Genet Res (Camb). 2021:6652957. eCollection 2021. PMID: 33762894.

Jeanne M et al. Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations. J Med Genet. 2025;62(4):258-267. PMID: 39798962.

Turgut GT et al. Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients. Clin Genet. 2025 Apr 2. PMID: 40170577.