Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Familial syndrome resembling Aarskog syndrome.

American journal of medical genetics. Part A - 1 Aug 2010

Xu Mingzhi, Qi Ming, Zhou Huali, Yong Jing, Qiu Huiqing, Cong Peikuan, Hong Xutao, Li Chengjiang, Jiang Yan, Chen Xiao, Yu Yunsong

Abstract excerpt

Aarskog(-Scott) syndrome (AAS) is characterized by short stature, and facial, limb, and genital anomalies. AAS can be an X-linked condition caused by mutations in the FGD1 gene, but there is evidence that an autosomal dominant or recessive form also exists. We report on a Chinese family in whom several members have manifestations of AAS, but differ in limb anomalies and show additional characteristics. FGD1...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Guanine Nucleotide Exchange Factors

Share to Infant, Newborn

Share to Intellectual Disability

Share to Mutation

Share to Pedigree

Share to Syndrome

Source

Identifiers

PMID: 20607856
DOI: 10.1002/ajmg.a.33487

Genes

FGD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial syndrome resembling Aarskog syndrome.PMID 20607856Read ↗

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

Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.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 ↗

Aarskog-Scott syndrome: clinical and molecular characterisation of a family with the coexistence of a novel FGD1 mutation and 16p13.11-p12.3 microduplication.Semantic proximity Read ↗

Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.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 ↗

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

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

Novel variant in FGFR2 in a family with anterior segment anomalies.Semantic proximity Read ↗

The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.