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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| Autores principales: | , , , |
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| Formato: | Libro |
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Korean Society of Pediatric Nephrology,
2019-10-01T00:00:00Z.
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| Número de Clasificación: |
A1234.567 |
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