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A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 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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| Izdano u: | Ann Pediatr Endocrinol Metab |
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| Glavni autori: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Korean Society of Pediatric Endocrinology
2019
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6603605/ https://ncbi.nlm.nih.gov/pubmed/31261480 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2019.24.2.137 |
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