Associated Papers
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients.
Turgut GT et al.
Clinical Genetics, 2025
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Komatsu K et al.
Scientific Reports, 2024
39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1
A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.
Kessel I et al.
American Journal of Medical Genetics. Part A, 2021
Minireview: Role of genetic changes of faciogenital dysplasia protein 1 in human disease.
Pedigo NG et al.
Physiological Genomics, 2016
Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.
Lebel RR et al.
Clinical Genetics, 2002
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