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
Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis.
Huddar A et al.
Children (basel, Switzerland), 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
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