Article

Case Report: A Novel FGD1 c.16G>A Variant Associated With Atypical Aarskog-Scott Syndrome in a Chinese Toddler

2026-08-14

Abstract excerpt

<title>Abstract</title> <p>Background Aarskog-Scott syndrome (AAS) is an X-linked developmental disorder caused by variants in FGD1. Most affected males are recognized through craniofacial, skeletal, genital, and growth findings, but mild or incomplete presentations can delay etiologic diagnosis. Case presentation We report a Chinese boy aged 2 years and 3 months who presented with persistent speech delay, mild...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: a0b7def6-3b67-59d7-b3fb-a938848e4744
DOI: 10.21203/rs.3.rs-10426801/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Case Report: A Novel FGD1 c.16G>A Variant Associated With Atypical Aarskog-Scott Syndrome in a Chinese ToddlerDOI 10.21203/rs.3.rs-10426801/v1Read

Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.Semantic proximity Read

Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia.Semantic proximity Read

Expanding the phenotypic spectrum of Rauch-Steindl syndrome: A novel NSD2 variant with atrial septal defect in a Chinese patientSemantic proximity Read

[Analysis of FGD1 gene variant in a child with Aarskog-Scott syndrome].Semantic proximity Read

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

The First Korean Family with Aarskog-Scott Syndrome Harboring a Novel Mutation in FGD1 Diagnosed via Targeted Gene Panel Sequencing.Semantic proximity Read

Familial syndrome resembling Aarskog syndrome.Semantic proximity Read

A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.Semantic proximity Read

Identification of novel ATRX mutations in Chinese patients with ATRX syndrome related intellectual disability/developmental delaySemantic proximity Read

Distinct genetic etiologies with overlapping neurodevelopmental phenotypes: a two-case series involving GNAI1 and CHAMP1 variantsSemantic proximity Read

Longitudinal characterization of clinical, developmental, and behavioral phenotypes in 101 children and adults with FOXG1 syndromeSemantic proximity Read

Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variant.Semantic proximity Read