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
Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D).
Umair M et al.
Frontiers in Pediatrics, 2019
Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.
Nagata K et al.
Acta Neuropathologica Communications, 2017
ECEL1 mutation causes fetal arthrogryposis multiplex congenita.
Dohrn N et al.
American Journal of Medical Genetics. Part A, 2015
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
Shaaban S et al.
Clinical Genetics, 2014
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D.
Shaheen R et al.
Clinical Genetics, 2014
Mutations in ECEL1 cause distal arthrogryposis type 5D.
McMillin MJ et al.
American Journal of Human Genetics, 2013
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