Vitamin D Dependent Rickets Type 1A Caused by Mutation
Vitamin D dependent rickets type 1A (VDDR1A) is an autosomal recessive disorder caused by mutations in CYP27B1 . Clinical findings are growth retardation, hypotonia, muscle weakness, hypocalcemic seizures, and radiological features of rickets. We aimed to present the VDDR1A case with a genetic study...
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| Main Authors: | , , , |
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| Format: | Book |
| Published: |
Korean Society of Pediatric Nephrology,
2019-10-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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