Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries.

Sommayya Aftab Sabeen Abid KhanMunir Iqbal MalikAhmed ImranMuhammad Nadeem AnjumAnjum SaeedAbid Ali QureshiHuma Arshad Cheema

Published in: Journal of pediatric endocrinology & metabolism : JPEM (2022)

We should have a high index of suspicion of VDDR1A in rickets not responding to cholecalciferol therapy.

Keyphrases