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
40700061 (PubMed )
Supplement: pediatrrep-17-00073-s001.zip › pediatrrep-3543018-supplementary.xlsx › Sheet_1
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders.
Jurgens JA et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38585811 (PubMed )
Supplement: media-4.xlsx › Sheet1
Novel truncating variants in FGD1 detected in two Danish families with Aarskog-Scott syndrome and myopathic features.
Bayat A et al.
American Journal of Medical Genetics. Part A, 2022
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.
Zhang C et al.
Hgg Advances, 2022
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
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
White JJ et al.
American Journal of Human Genetics, 2018
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
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
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
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
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