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

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

Journal of pediatric endocrinology & metabolism : JPEM - 1 Sept 2016

Parıltay Erhan, Hazan Filiz, Ataman Esra, Demir Korcan, Etlik Özdal, Özbek Erhan, Özkan Behzat

Abstract excerpt

Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. FGD1 regulates the actin cytoskeleton and regulates cell growth and differentiation by activating the c-Jun N-terminal kinase signaling cascade. ASS is characterized by craniofacial dysmorphism, short stature, interdigital webbing and shawl scrotum. However, there is a wide phenotypic heterogeneity because of the...

Read the complete abstract on PubMed

Topics

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

Share to Craniofacial Abnormalities
Share to Dwarfism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genitalia, Male

Share to Guanine Nucleotide Exchange Factors

Share to Hand Deformities, Congenital

Share to Limb Deformities, Congenital

Share to Urogenital Abnormalities

Source

Identifiers

PMID: 27544718
DOI: 10.1515/jpem-2015-0482

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

A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.PMID 27544718Read ↗

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

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 ↗

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

Familial syndrome resembling Aarskog syndrome.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 ↗

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

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

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 ↗

A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactyly.Semantic proximity Read ↗

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