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
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.
Orrico A et al.
European Journal of Human Genetics : Ejhg, 2015
Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.
Völter C et al.
European Journal of Pediatrics, 2014
No association between FGD1 gene polymorphisms and intellectual developmental disability in the Qinba mountain area.
Li JL et al.
Genetics and Molecular Research : Gmr, 2014
FGD1 as a central regulator of extracellular matrix remodelling--lessons from faciogenital dysplasia.
Genot E et al.
Journal of Cell Science, 2012
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
Orrico A et al.
European Journal of Human Genetics : Ejhg, 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
Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1.
Bottani A et al.
American Journal of Medical Genetics. Part A, 2007
A newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes.
Hoffman JD et al.
American Journal of Medical Genetics. Part A, 2007
Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.
Orrico A et al.
American Journal of Medical Genetics. Part A, 2007
Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.
Kaname T et al.
American Journal of Medical Genetics. Part A, 2006
Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).
Orrico A et al.
American Journal of Medical Genetics. Part A, 2005