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
A novel frameshift mutation in the FGD1 gene causing Aarskog-Scott syndrome patient with hypogonadism: a case report.
Jia H et al.
Translational Pediatrics, 2021
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.
Hauer NN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
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