- Long-term clinical outcome and the identification of homozygous CYP27B1 gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A
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Cho JH, Kang E, Kim GH, Lee BH, Choi JH, Yoo HW
- KMID: 2366794
- Ann Pediatr Endocrinol Metab.
- 2016 Sep;21(3):169-173.
- doi: 10.6065/apem.2016.21.3.169
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... -
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- A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene
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Kim YM, Jang YY, Jeong JE, Park HJ, Jang JH, Kim JK
- KMID: 2452092
- Ann Pediatr Endocrinol Metab.
- 2019 Jun;24(2):137-141.
- doi: 10.6065/apem.2019.24.2.137
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... -
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- Vitamin D Dependent Rickets Type 1A Caused by CYP27B1 Mutation
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Bak NR, Song ES, Yang EM, Kim CJ
- KMID: 2464936
- Child Kidney Dis.
- 2019 Oct;23(2):111-115.
- doi: 10.3339/jkspn.2019.23.2.111
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... -
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