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Article

Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review.

Journal of pediatric endocrinology & metabolism : JPEM - 20 Dec 2021

Dodamani Manjunath Havalappa, Sehemby Manjeetkaur, Memon Saba Samad, Sarathi Vijaya, Lila Anurag R, Chapla Aaron, Bhandare Vishwambhar Vishnu, Patil Virendra A, Shah Nalini S, Thomas Nihal, Kunwar Ambarish, Bandgar Tushar R

Abstract excerpt

BACKGROUND: Vitamin D dependent rickets type 1 (VDDR1) is a rare disease due to pathogenic variants in 1-α hydroxylase gene. We describe our experience with systematic review of world literature to describe phenotype and genotype. METHODS: Seven patients from six unrelated families with genetically proven VDDR1 from our cohort and 165 probands from systematic review were analyzed retrospectively. The clinical...

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PMID: 34492747
DOI: 10.1515/jpem-2021-0403

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