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
Utility of Hypotonia Diagnostic Investigations: A 12-year Single Center Study.
AlBanji MH et al.
Molecular Genetics and Metabolism Reports, 2020
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D et al.
Journal of Neuromuscular Diseases, 2019
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.
Ullmann U et al.
Neuromuscular Disorders : Nmd, 2018
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
ECEL1 mutation causes fetal arthrogryposis multiplex congenita.
Dohrn N et al.
American Journal of Medical Genetics. Part A, 2015
The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.
Khan AO et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2014
Expanding the phenotypic spectrum of ECEL1-related congenital contracture syndromes.
Shaaban S et al.
Clinical Genetics, 2014
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Dieterich K et al.
Human Molecular Genetics, 2013