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Vitamin D-dependent rickets (VDDR) type 1: case series of two siblings with a CYP27B1 mutation and review of the literature

Dhull, Rachita Singh; Jain, Reena; Deepthi, Bobbity; Cheong, Hae II; Saha, Abhijeet; Mehndiratta, Mohit; Basu, Srikanta.
J. bras. nefrol; 42 (4), 2020
Abstract Two siblings presented with clinical and biochemical features of rickets, initially suspected as hypophosphatemic rickets. There was no improvement initially, hence the siblings were reinvestigated and later diagnosed as having vitamin D-dependent rickets (VDDR) type 1 due to a rare mutation in ...
25-Hidroxivitamina D3 1-alfa-Hidroxilasa/genética, Raquitismo Hipofosfatémico Familiar/diagnóstico, Raquitismo Hipofosfatémico Familiar/genética, Mutación, Hermanos, Vitamina D
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