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

Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.

Molecular vision - 1 Jan 2013

Yang Ming-ming, Ho Mary, Lau Henry H W, Tam Pancy O S, Young Alvin L, Pang Chi Pui, Yip Wilson W K, Chen LiJia

Abstract excerpt

PURPOSE: To determine the underlying genetic cause of Duane retraction syndrome (DRS) in a non-consanguineous Chinese Han family. METHODS: Detailed ophthalmic and physical examinations were performed on all members from a pedigree with DRS. All exons and their adjacent splicing junctions of the sal-like 4 (SALL4) gene were amplified with polymerase chain reaction and analyzed with direct sequencing in all the...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Infant

Share to Infant, Newborn

Share to Magnetic Resonance Imaging

Share to Pedigree

Share to Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 23687435
PMCID: PMC3654842

Genes

SALL4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Diversified clinical presentations associated with a novel sal-like 4 gene mutation in a Chinese pedigree with Duane retraction syndrome.PMID 23687435Read ↗

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

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 gene in a Chinese family with Okihiro syndromeSemantic proximity Read ↗

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

Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.Semantic proximity Read ↗

Longitudinal Characterization of the Clinical Course of Intermediate-Severe Salla Disease.Semantic proximity Read ↗

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

[Clinical and molecular genetic findings in isolated sporadic Duane syndrome].Semantic proximity Read ↗

Clinical diversity of hereditary Duane's retraction syndrome.Semantic 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 ↗

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