Aarskog Syndrome Latest Advances

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

Aarskog Syndrome Latest Advances

Find the Latest Research About Aarskog Syndrome

The Co-Occurrence of Autism Spectrum Disorder and Aarskog-Scott Syndrome in an Accomplished Young Man.

The Co-Occurrence of Autism Spectrum Disorder and Aarskog-Scott Syndrome in an Accomplished Young Man.

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients.

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients.

FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects.

FGD1-related Aarskog-Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects.

Prenatal ultrasound signs of Aarskog-Scott syndrome in a twin pregnancy: A case report.

Prenatal ultrasound signs of Aarskog-Scott syndrome in a twin pregnancy: A case report.

Aarskog-scott syndrome (AAS): a case report.

Aarskog-scott syndrome (AAS): a case report.

A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.

A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.

9-year follow-up of uncommon cleft palate in Aarskog-Scott syndrome.

9-year follow-up of uncommon cleft palate in Aarskog-Scott syndrome.

Velopharyngeal Characteristics in Aarskog-Scott Syndrome: A Case Report.

Velopharyngeal Characteristics in Aarskog-Scott Syndrome: A Case Report.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Aarskog-Scott syndrome: a clinical study based on a large series of 111 male patients with a pathogenic variant in FGD1 and management recommendations.

Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study.

Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study.

Aortic root aneurysm in a patient with Aarskog-Scott syndrome.

Aortic root aneurysm in a patient with Aarskog-Scott syndrome.

FGD1 Variant Associated With Aarskog-Scott Syndrome.

FGD1 Variant Associated With Aarskog-Scott Syndrome.