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...
Main Authors: | Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo |
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Format: | Article |
Language: | English |
Published: |
Korean Society of Pediatric Endocrinology
2016-09-01
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Series: | Annals of Pediatric Endocrinology & Metabolism |
Subjects: | |
Online Access: | http://e-apem.org/upload/pdf/apem-21-169.pdf |
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