A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in gene

• Main Authors: You-Min Kim (Author), Yoon-Young Jang (Author), Ji-Eun Jeong (Author), Hye-Jin Park (Author), Ja-Hyun Jang (Author), Jin-Kyung Kim (Author)
• Format: Book
• Published: Korean Society of Pediatric Endocrinology, 2019-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A, OMIM 264700) is a rare autosomal recessive inherited disorder. Pathogenic variants in the CYP27B1 gene lead to loss of 1α-hydroxylase activity. We report the case of a 22-month-old toddler who presented with growth retardation and delayed de...