Associated Papers
Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D).
Umair M et al.
Frontiers in Pediatrics, 2019
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.
Laquérriere A et al.
Human Molecular Genetics, 2014
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