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

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Ozden A., Döneray H.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.34, sa.6, ss.781-789, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 6
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1515/jpem-2020-0691
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.781-789
  • Anahtar Kelimeler: 1 alpha-hydroxylase, children, vitamin D dependent rickets type 1A, CYP27B1 GENE, 1-ALPHA-HYDROXYLASE, MUTATIONS
  • Atatürk Üniversitesi Adresli: Evet

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.