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 family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation.

American journal of medical genetics. Part A - 1 Feb 2006

Terhal Paulien, Rösler Bernd, Kohlhase Jürgen

Abstract excerpt

The SALL4 gene encodes a putative zinc finger transcription factor and is located on chromosome 20q13.13-13.2. Mutations in SALL4 have been identified in patients with Okihiro syndrome, which is characterized by radial ray anomalies associated with a Duane anomaly. Here, we report an unusual family in which affected persons show an extremely variable phenotype consistent with either Okihiro syndrome, hemifacial...

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 Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facial Asymmetry

Share to Family Health

Share to Hand Deformities, Congenital

Share to Heterozygote

Share to Infant

Share to Transcription Factors

Source

Identifiers

PMID: 16411190
DOI: 10.1002/ajmg.a.31060

Genes

SALL4

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 family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation.PMID 16411190Read ↗

A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome.Semantic proximity Read ↗

SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.Semantic proximity Read ↗

A de novo mutation of SALL4 gene in a Chinese family with Okihiro syndromeSemantic proximity Read ↗

Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.Semantic proximity Read ↗

Clinical and Genetic Findings in Mexican Patients with Duane Anomaly and Radial Ray Malformations/Okihiro Syndrome.Semantic proximity Read ↗

Okihiro syndrome is caused by SALL4 mutations.Semantic proximity Read ↗

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.Semantic proximity Read ↗

A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: A case report and expanding the phenotypic spectrumSemantic proximity Read ↗

Analysis of the SALL4 gene in patients with Duane retraction syndrome in a South Indian population.Semantic proximity Read ↗

A de novo mutation of SALL4 in a Chinese family with Duane Radial Ray Syndrome and expanding the phenotypic spectrumSemantic proximity Read ↗

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.Semantic proximity Read ↗

Cloning and expression analysis of SALL4, the murine homologue of the gene mutated in Okihiro syndrome.Semantic proximity Read ↗

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