Associated Papers
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.
Endrakanti M et al.
American Journal of Medical Genetics. Part A, 2024
A novel compound heterozygous variant of ECEL1 induced joint dysfunction and cartilage degradation: a case report and literature review.
Jing S et al.
Frontiers in Neurology, 2024
Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis.
Huddar A et al.
Children (basel, Switzerland), 2021
Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene.
Gowda M et al.
Clinical Dysmorphology, 2021
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.
Alesi V et al.
International Journal of Molecular Sciences, 2021
The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.
Jin JY et al.
Biomed Research International, 2020
A novel ECEL1 mutation expands the phenotype of distal arthrogryposis multiplex congenita type 5D to include pretibial vertical skin creases.
Stattin EL et al.
American Journal of Medical Genetics. Part A, 2018
Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.
Nagata K et al.
Acta Neuropathologica Communications, 2017
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ et al.
Orphanet Journal of Rare Diseases, 2015
ECEL1 mutation causes fetal arthrogryposis multiplex congenita.
Dohrn N et al.
American Journal of Medical Genetics. Part A, 2015
Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.
Barnett CP et al.
American Journal of Medical Genetics. Part A, 2014
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