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Genotypic Spectrum and its Correlation with Alopecia and Clinical Response in Hereditary Vitamin D Resistant Rickets: Our Experience and Systematic Review.

Calcified tissue international - 1 Apr 2023

Dodamani Manjunath Havalappa, Lila Anurag Ranjan, Memon Saba Samad, Sarathi Vijaya, Arya Sneha, Rane Ankita, Sehemby Manjeet Kaur, Garg Robin, Bhandare Vishwambhar Vishnu, Karlekar Manjiri, Patil Virendra A, Kunwar Ambarish, Bandgar Tushar R

Abstract excerpt

Alopecia in hereditary vitamin D resistant rickets (HVDRR) has some correlation with severe rickets and poor overall response. However, these observations are based on small series. Hence, we aim to assess the genotypic spectrum of HVDRR and its correlation with alopecia and clinical response. Seven genetically-proven HVDDR patients from five unrelated families and 119 probands from systematic review were...

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PMID: 36705686
DOI: 10.1007/s00223-023-01061-8

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