NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE-SITE MUTATION

DEMİR K., Zou M., Al-Rijjal R. A., BinEssa H., Acar S., Durmaz E., ...Daha Fazla

ENDOCRINE PRACTICE, cilt.26, sa.1, ss.72-81, 2020 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 26 Sayı: 1
  • Basım Tarihi: 2020
  • Doi Numarası: 10.4158/ep-2019-0295
  • Dergi Adı: ENDOCRINE PRACTICE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.72-81
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Objective: Vitamin D-dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor gene (VDR), leading to end-organ resistance to 1,25-dihydroxyvitamin D-3 (1,25[OH](2)D-3). The objective of this study was to investigate VDR mutations in 11 patients from 8 TurkishArab families.