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Article

Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.

Clinical genetics - 1 Jun 2014

Shaheen R, Al-Owain M, Khan A O, Zaki M S, Hossni H A A, Al-Tassan R, Eyaid W, Alkuraya F S

Abstract excerpt

Arthrogryposis refers to congenital contracture in at least two different body parts. When distal joints are primarily involved, the term distal arthrogryposis (DA) is used. The recognition of clinically distinct subtypes of DA has proven very useful in mapping the disease genes for this genetically heterogeneous condition. DA5D is characterized by ocular involvement usually in the form of ptosis and incomitant...

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Source

Identifiers

PMID: 23829171
DOI: 10.1111/cge.12226

Genes

ECEL1

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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

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Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.PMID 23829171Read ↗

The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.Semantic proximity Read ↗

Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.Semantic proximity Read ↗

Mutations in ECEL1 cause distal arthrogryposis type 5D.Semantic proximity Read ↗

Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D)Semantic proximity Read ↗

Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.Semantic proximity Read ↗

ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.Semantic proximity Read ↗

A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.Semantic proximity Read ↗

Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D.Semantic proximity Read ↗

A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.Semantic proximity Read ↗

Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene.Semantic proximity Read ↗

Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.Semantic proximity Read ↗

Long term ophthalmic complications of distal arthrogryposis type 5D.Semantic proximity Read ↗

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