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
Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report.
Illés A et al.
Children (basel, Switzerland), 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
Long term ophthalmic complications of distal arthrogryposis type 5D.
Cohen D et al.
Ophthalmic Genetics, 2023
Fetal akinesia: The need for clinical vigilance in first trimester with decreased fetal movements.
Zhang YL et al.
Taiwanese Journal of Obstetrics & Gynecology, 2021
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