The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A.

Abstract excerpt

OBJECTIVES: Vitamin D dependent rickets type 1A (VDDR-1A) is a very rare autosomal recessive disorder caused by mutations in the CYP27B1, which encodes vitamin D 1α-hydroxylase. We report the genetics and clinical manifestations of nine patients with VDDR-1A and compare our patients to other cases with the same mutations in the literature. METHODS: The clinical presentations, clinical and laboratory findings and...

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