Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 134 publications
The Co-Occurrence of Autism Spectrum Disorder and Aarskog-Scott Syndrome in an Accomplished Young Man.
Journal: Pediatric reports
Published: March 06, 2025
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients.
Journal: Clinical genetics
Published: February 10, 2025
FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects.
Journal: European journal of pediatrics
Published: January 15, 2024
Prenatal ultrasound signs of Aarskog-Scott syndrome in a twin pregnancy: A case report.
Journal: International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
Published: October 08, 2023
Aarskog-scott syndrome (AAS): a case report.
Journal: European journal of paediatric dentistry
Published: June 20, 2023
A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.
Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: May 29, 2023
9-year follow-up of uncommon cleft palate in Aarskog-Scott syndrome.
Journal: Journal of clinical and experimental dentistry
Published: April 02, 2023
Velopharyngeal Characteristics in Aarskog-Scott Syndrome: A Case Report.
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: December 07, 2022
Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.
Journal: Journal of medical genetics
Published: August 08, 2022
Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study.
Journal: Frontiers in genetics
Published: April 29, 2022
Aortic root aneurysm in a patient with Aarskog-Scott syndrome.
Journal: Journal of cardiac surgery
Published: April 15, 2022
FGD1 Variant Associated With Aarskog-Scott Syndrome.
Journal: Frontiers in pediatrics
Published: March 03, 2022
Last Updated: 10/31/2025