The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A

Ozden, Ayşe; Döneray, Hakan

doi:10.1515/jpem-2020-0691

Makale Tam Makale Uluslararası 2021 Açık erişimli

The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A

Ayşe Ozden, Hakan Döneray

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM Cilt 34 · Sayı 6 · ss. 781–789 · 01.01.2021

DOI ile aç

Özet

Objectives: Vitamin D dependent rickets type 1A (VDDR-1A) is a very rare autosomal recessive disorder caused by mutations in the CYP27B1, which encodes vitamin D 1a-hydroxylase. We report the genetics and clinical manifestations of nine patients with VDDR-1A and compare our patients to other cases with the same mutations in the literature.

Anahtar kelimeler

CHILDREN 1 alpha-hydroxylase vitamin D dependent rickets type 1A

Atıf için künye

Ozden, A., & Döneray, H. (2021). The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 34(6), 781–789. https://doi.org/10.1515/jpem-2020-0691

BibTeX

@article{ozden2021-222645,
  author = {Ozden, Ayşe and Döneray, Hakan},
  title = {The genetics and clinical manifestations of patients with vitamin D dependent rickets type 1A},
  journal = {JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM},
  year = {2021},
  volume = {34},
  number = {6},
  pages = {781--789},
  issn = {0334-018X},
  doi = {10.1515/jpem-2020-0691},
  url = {https://akademik.atauni.edu.tr/yayinlar/222645-the-genetics-and-clinical-manifestations-of-patients-with-vitamin-d-dependent}
}