A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in CYP27B1 gene.

Kim, You-Min; Jang, Yoon-Young; Jeong, Ji-Eun; Park, Hye-Jin; Jang, Ja-Hyun; Kim, Jin-Kyung.

Afiliação

Kim YM; Department of Pediatrics, Catholic University of Daegu School of Medicine, Daegu, Korea.
Jang YY; Department of Pediatrics, Catholic University of Daegu School of Medicine, Daegu, Korea.
Jeong JE; Department of Pediatrics, Catholic University of Daegu School of Medicine, Daegu, Korea.
Park HJ; Department of Pediatrics, Catholic University of Daegu School of Medicine, Daegu, Korea.
Jang JH; Green Cross Genome, Yongin, Korea.
Kim JK; Department of Pediatrics, Catholic University of Daegu School of Medicine, Daegu, Korea.

Ann Pediatr Endocrinol Metab ; 24(2): 137-141, 2019 Jun.

Article em En | MEDLINE | ID: mdl-31261480