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
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients.
Turgut GT et al.
Clinical Genetics, 2025
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
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
CHIPS for genetic testing to improve a regional clinical genetic service.
Niida Y et al.
Clinical Genetics, 2015
Clinical utility gene card for: Aarskog-Scott Syndrome (faciogenital dysplasia) - update 2015.
Orrico A et al.
European Journal of Human Genetics : Ejhg, 2015
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