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Article

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

European journal of pediatrics - 1 May 2024

Li Sujuan, Tian Anran, Wen Yu, Gu Wei, Li Wei, Qiao Xiaohong, Zhang Cai, Luo Xiaoping

Abstract excerpt

Patients with Aarskog-Scott syndrome (AAS) have short stature, facial anomalies, skeletal deformities, and genitourinary malformations. FYVE, RhoGEF, and PH domain-containing 1 (FGD1) is the only known causative gene of AAS. However, the diagnosis of AAS remains difficult, and specific treatments are still absent. Patients suspected with AAS were recruited, and clinical information was collected. Genetic testing...

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Identifiers

PMID: 38411716
DOI: 10.1007/s00431-024-05484-9
PMCID: PMC11035466

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