Article

An overview of CYP27B1 enzyme mutation and management: A case report and review of the literature

2022-10-07

Abstract excerpt

Vitamin D-dependent rickets type 1 (VDDRIA) is an autosomal recessive disease caused by mutations in the Cytochrome P450 Family 27 Subfamily B Member 1 (CYP27B1) gene encoding the enzyme 1 alpha-hydroxylase. We report a known VDDRIA case presenting with hypotonia, growth and developmental disorders.

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Literature Corpus work: de038af6-53e1-55c8-b90c-455f16342915
DOI: 10.22541/au.166512606.68523216/v1

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