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Article

Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.

American journal of medical genetics. Part A - 1 Nov 2014

Patil Siddaramappa J, Rai Gaurava Kumar, Bhat Venkatraman, Ramesh Vakkalagadda A, Nagarajaram H A, Matalia Jyoti, Phadke Shubha R

Abstract excerpt

Distal arthrogryposis syndromes (DAs) show wide clinical variability and overlapping clinical findings with the other DAs classified by Bamshad et al. [1996]. Most of the DAs are inherited as autosomal dominant disorders. DA type 5D is a subtype of DA type 5 inherited as autosomal recessive disorder, clinically characterized by congenital distal joint contractures, knee extension contractures, congenital hip...

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Source

Identifiers

PMID: 25099528
DOI: 10.1002/ajmg.a.36702

Genes

ECEL1

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.

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Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.PMID 25099528Read ↗

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

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

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

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

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

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

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

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

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.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 ↗

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

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