A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in gene
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...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
Korean Society of Pediatric Endocrinology,
2019-06-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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