Associated Papers
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
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
31127727 (PubMed )
Supplement: sj-xlsx-1-jnd-10.3233_jnd-180376.xlsx › Blad1
ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.
Ullmann U et al.
Neuromuscular Disorders : Nmd, 2018
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
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Dieterich K et al.
Human Molecular Genetics, 2013
Select a paper to view details