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- [1] VITAMIN D DEPENDENT RICKETS TYPE 1: A NOVEL MUTATION IN CYP27B1 IN A GIRL WITH DOWN SYNDROME HORMONE RESEARCH IN PAEDIATRICS, 2023, 96 : 38 - 38
- [3] Case report: vitamin D-dependent rickets type 1 caused by a novel CYP27B1 mutation CLINICAL CASE REPORTS, 2015, 3 (12): : 1012 - 1016
- [5] Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A PLOS ONE, 2015, 10 (07):
- [6] A novel compound mutation of CYP27B1 in a Chinese family with vitamin D-dependent rickets type 1A JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2014, 27 (3-4): : 335 - 341
- [7] A Novel G102E Mutation of CYP27B1 in a Large Family with Vitamin D-Dependent Rickets Type 1 JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2010, 95 (09): : 4176 - 4183
- [8] Novel Homozygous CYP27B1 Gene Mutation in Vitamin D-Dependent Rickets Type 1A (VDDR1A) Disorder: A Case Report FRONTIERS IN ENDOCRINOLOGY, 2022, 13
- [10] Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature JORNAL BRASILEIRO DE NEFROLOGIA, 2020, 42 (04): : 494 - 497