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

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

American journal of medical genetics. Part A - 1 Aug 2024

Endrakanti Mounika, Sharma Jyoti, Ethayathulla Abdul S, Kaur Punit, Khan Shah Alam, Kabra Madhulika, Gupta Neerja

Abstract excerpt

Distal arthrogryposis type 5D (DA5D) is clinically characterized by knee extension contractures, distal joint contractures, clubfoot, micrognathia, ptosis, and scoliosis. We report nine affected individuals from eight unrelated Indian families with DA5D. Although the overall musculoskeletal phenotype is not very distinct from other distal arthrogryposis, the presence of fixed knee extension contractures with or...

Read the complete abstract on PubMed

Topics

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

Share to Arthrogryposis
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Founder Effect

Share to Genetic Association Studies

Share to Infant

Share to Metalloendopeptidases

Share to Pedigree

Source

Identifiers

PMID: 38568023
DOI: 10.1002/ajmg.a.63592

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.PMID 38568023Read ↗

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 ↗

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 ↗

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

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 ↗

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

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