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Last Updated: 10/31/2025
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Found 170 publications
Clinical and genetic analysis of a pedigree affected with Distal arthrogryposis type 5D due to compound heterozygous variants of ECEL1 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 15, 2025
ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.
Journal: Neuromuscular disorders : NMD
Published: April 10, 2025
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT).
Journal: Molecular genetics & genomic medicine
Published: March 17, 2025
ECEL1 mutation in distal arthrogryposis type 5D: A case report.
Journal: European journal of obstetrics, gynecology, and reproductive biology
Published: November 04, 2024
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
Journal: medRxiv : the preprint server for health sciences
Published: October 07, 2024
Oblique Dorsiflexion Osteotomy of the Distal Tibia for Fixed Ankle Equinus: Surgical Technique.
Journal: Strategies in trauma and limb reconstruction
Published: June 27, 2024
Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report.
Journal: Children (Basel, Switzerland)
Published: May 22, 2024
A retrospective study on the correction of distal arthrogryposis with a progressive extension brace.
A retrospective study on the correction of distal arthrogryposis with a progressive extension brace.
Journal: Frontiers in pediatrics
Published: February 14, 2024
MET is a new confirmed gene responsible for familial distal arthrogryposis.
Journal: EMBO molecular medicine
Published: August 17, 2023
Mutation in F-actin Polymerization Factor Suppresses Distal Arthrogryposis Type 5 (DA5) PIEZO2 Pathogenic Variant in Caenorhabditis elegans.
Journal: bioRxiv : the preprint server for biology
Published: August 07, 2023
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.
Journal: American journal of medical genetics. Part A
Published: July 30, 2023
Last Updated: 10/31/2025