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Compound Heterozygous Variants of CYP27B1 Causing Autosomal Recessive Vitamin D-Dependent Rickets Type 1A in an Indian Child

Background: Vitamin D-dependent rickets Type 1A (VDDR-1A) is a rare cause of rickets occurring due to variants of CYP27B1 responsible for encoding enzyme 1ά hydroxylase. Clinical Description: We report a 17-months-old girl who presented to us with clinical and radiological features of rickets. The...

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Bibliographic Details
Main Authors:	Mitesh Kakkad (Author), Khyati Kakkad (Author), Chirantap Oza (Author)
Format:	Book
Published:	Wolters Kluwer Medknow Publications, 2024-05-01T00:00:00Z.
Subjects:	article
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