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.