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Article

A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child.

Medical principles and practice : international journal of the Kuwait University, Health Science Centre - 1 Jan 2017

Hamzeh Abdul Rezzak, Nair Pratibha, Mohamed Madiha, Saif Fatima, Tawfiq Nafisa, Khalifa Mohamed, Al-Ali Mahmoud Taleb, Bastaki Fatma

Abstract excerpt

OBJECTIVE: The aim of this work was to report a case of an Emirati child who presented with developmental delay and multiple congenital abnormalities that are consistent with distal arthrogryposis type 5D. CLINICAL PRESENTATION AND INTERVENTION: The clinical presentation comprised contractures of the shoulders, elbows, and knees in addition to camptodactyly and neck pterygium. The facial dysmorphic features noted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28114145
DOI: 10.1159/000456034
PMCID: PMC5588382

Genes

ECEL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child.PMID 28114145Read ↗

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

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

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

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

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 with a novel ECEL1 gene mutation.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 ↗

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

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

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