Associated Papers
A novel KDM5C variant corrects a previously erroneous diagnosis.
Chapin J et al.
European Journal of Medical Genetics, 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
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Fadaie Z et al.
Npj Genomic Medicine, 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
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.
Hamzeh AR et al.
Bmc Pediatrics, 2017
Minireview: Role of genetic changes of faciogenital dysplasia protein 1 in human disease.
Pedigo NG et al.
Physiological Genomics, 2016
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.
Orrico A et al.
European Journal of Human Genetics : Ejhg, 2015
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C et al.
Journal of Medical Genetics, 2014
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
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
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
Rho GTPases, dendritic structure, and mental retardation.
Newey SE et al.
Journal of Neurobiology, 2005
Disruption of a new X linked gene highly expressed in brain in a family with two mentally retarded males.
Cantagrel V et al.
Journal of Medical Genetics, 2004
[X-linked mental retardation: a continuous spectrum from syndromic forms towards non-specific forms].
des Portes V et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2004
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.
Orrico A et al.
European Journal of Human Genetics : Ejhg, 2004
Localization of a non-syndromic X-linked mental retardation gene (MRX80) to Xq22-q24.
Verot L et al.
American Journal of Medical Genetics. Part A, 2003
Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.
Lebel RR et al.
Clinical Genetics, 2002
Clinical and molecular contributions to the understanding of X-linked mental retardation.
Stevenson RE et al.
Cytogenetic and Genome Research, 2002