Associated Papers
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
Rho GTPases in Intellectual Disability: From Genetics to Therapeutic Opportunities.
Zamboni V et al.
International Journal of Molecular Sciences, 2018
A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.
Parıltay E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2016
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome.
Pérez-Coria M et al.
Molecular Genetics & Genomic Medicine, 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
Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.
Aten E et al.
Human Mutation, 2013
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
Select a paper to view details