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
Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene.
Gowda M et al.
Clinical Dysmorphology, 2021
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