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Article

Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D.

Clinical dysmorphology - 1 Oct 2018

Rai Archana, Puri Ratna D, Phadke Shubha R

Abstract excerpt

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Source

Identifiers

PMID: 30080694
DOI: 10.1097/MCD.0000000000000236

Genes

ECEL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D.PMID 30080694Read ↗

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

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

Identification of three novel ECEL1 mutations in three families with 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 ↗

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

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

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

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

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

<i>ECEL1</i> mutation causes fetal arthrogryposis multiplex congenitaSemantic proximity Read ↗

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