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Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.

Calcified tissue international - 1 May 2021

Kaygusuz Sare Betul, Alavanda Ceren, Kirkgoz Tarik, Eltan Mehmet, Yavas Abali Zehra, Helvacioglu Didem, Guran Tulay, Ata Pinar, Bereket Abdullah, Turan Serap

Abstract excerpt

Vitamin D-dependent rickets type IA (VDDR-IA) is caused by biallelic mutations in CYP27B1. Data regarding genotype-phenotype correlation in VDDR-IA are scarce. Here, we aimed to investigate clinical/genotypic features and long-term follow-up of 13 new cases with VDDR-IA and genotype-phenotype correlation of reported cases in the literature. Thirteen patients with VDDR-IA were evaluated. Eight patients had reached...

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PMID: 33386952
DOI: 10.1007/s00223-020-00784-2

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