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

Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.

American journal of medical genetics. Part A - 15 Jan 2006

Shalev Stavit A, Chervinski Elana, Weiner Ehud, Mazor Galia, Friez Michael J, Schwartz Charles E

Abstract excerpt

The clinical diagnosis of ASS (Aarskog-Scott syndrome or Faciogenital Dysplasia) was made in seven individuals belonging to a large Arabic family, which was supported by molecular studies revealing a 2189delA mutation in exon 15 of the FDG1 gene. The affected individuals in this family demonstrated clinical variability particularly in their cognitive skills, raising the question whether other genetic factors...

Read the complete abstract on PubMed

Topics

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

Share to Cognition Disorders
Share to Consanguinity

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facial Bones

Share to Fetal Diseases

Share to Genitalia, Male

Share to Guanine Nucleotide Exchange Factors

Share to Hypertelorism

Share to Prenatal Diagnosis

Source

Identifiers

PMID: 16353258
DOI: 10.1002/ajmg.a.31033

Genes

FGD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.PMID 16353258Read ↗

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 ↗

Aarskog-Scott syndrome: clinical update and report of nine novel mutations 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 ↗

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

Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.Semantic proximity Read ↗

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.Semantic proximity Read ↗

Dental and Maxillofacial Signs in Aarskog Syndrome: A Review of 3 Siblings and the Literature.Semantic proximity Read ↗

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.Semantic proximity Read ↗

First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.Semantic proximity Read ↗

Dysmorphic facial features in aspartylglucosaminuria patients and carriers.Semantic proximity Read ↗

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