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
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
The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing.
Bae GY et al.
Annals of Clinical and Laboratory Science, 2020
A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.
Hamzeh AR et al.
Bmc Pediatrics, 2017
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
Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
Orrico A et al.
European Journal of Human Genetics : Ejhg, 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
Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.
Shalev SA et al.
American Journal of Medical Genetics. Part A, 2006
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