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

Distal arthrogryposis type 1: clinical analysis of a large kindred.

American journal of medical genetics - 11 Nov 1996

Bamshad M, Bohnsack J F, Jorde L B, Carey J C

Abstract excerpt

We describe the clinical findings of 15 individuals in a large kindred affected with distal arthrogryposis type 1A (DA1A). The most consistent findings among individuals were overlapping fingers at birth, abnormal digital flexion creases, and foot deformities, including talipes equinovarus and vertical talus. There was marked intrafamilial variation in the expression of DA1A. Linkage mapping of the locus for DA1A...

Read the complete abstract on PubMed

Topics

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

Share to Foot Deformities, Congenital
Share to Hand Deformities, Congenital
Share to Pedigree

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Phenotype

Source

Identifiers

PMID: 8923936
DOI: 10.1002/(SICI)1096-8628(19961111)65:4<282::AID-AJMG7>3.0.CO;2-R

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Distal arthrogryposis type 1: clinical analysis of a large kindred.PMID 8923936Read ↗

A revised and extended classification of the distal arthrogryposesSemantic proximity Read ↗

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

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

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

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis.Semantic proximity Read ↗

Mutations in ECEL1 cause 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 ↗

Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B).Semantic proximity Read ↗

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

The Distal ArthrogryposesSemantic proximity Read ↗

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