Condition: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
rs530109812
in
SDR9C7
gene and
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13
PMID 28173123
2016 Mutations in SDR9C7 gene encoding an enzyme for vitamin A metabolism underlie autosomal recessive congenital ichthyosis.