Associated Papers
The Co-Occurrence of Autism Spectrum Disorder and Aarskog-Scott Syndrome in an Accomplished Young Man.
Romanova RS et al.
Pediatric Reports, 2025
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 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
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
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
Minireview: Role of genetic changes of faciogenital dysplasia protein 1 in human disease.
Pedigo NG et al.
Physiological Genomics, 2016
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.
Völter C et al.
European Journal of Pediatrics, 2014
FGD1 as a central regulator of extracellular matrix remodelling--lessons from faciogenital dysplasia.
Genot E et al.
Journal of Cell Science, 2012
MLK3 regulates bone development downstream of the faciogenital dysplasia protein FGD1 in mice.
Zou W et al.
The Journal of Clinical Investigation, 2011
Fraternal twins with Aarskog-Scott syndrome due to maternal germline mosaicism.
Pilozzi-Edmonds L et al.
American Journal of Medical Genetics. Part A, 2011
Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.
Orrico A et al.
American Journal of Medical Genetics. Part A, 2010
Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.
Schwartz CE et al.
European Journal of Human Genetics : Ejhg, 2000