Associated Papers
COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.
Mishra R et al.
American Journal of Medical Genetics. Part A, 2022
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
van Dijk T et al.
European Journal of Human Genetics : Ejhg, 2018
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