Long-term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A
Vitamin D hydroxylation-deficient rickets type 1A (VDDR1A) is an autosomal recessively-inherited disorder caused by mutations in CYP27B1 encoding the 1α-hydroxylase enzyme. We report on a female patient with VDDR1A who presented with hypocalcemic seizure at the age of 13 months. The typical clinical...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
Korean Society of Pediatric Endocrinology,
2016-09-01T00:00:00Z.
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| Subjects: | |
| Online Access: | Connect to this object online. |
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