Associated Papers
A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.
Takahashi I et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2024
Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Caswell RC et al.
Genome Medicine, 2022
35869530 (PubMed )
Supplement: 13073_2022_1082_MOESM1_ESM.xlsx › Additional_file_1
The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.
Zanetti Drumond V et al.
Genetics Research, 2021
33762894 (PubMed )
Supplement: 6652957.f1.pdf
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