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Article

Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.

The Journal of clinical endocrinology and metabolism - 10 Mar 2023

Méaux Marie-Noëlle, Harambat Jérôme, Rothenbuhler Anya, Léger Juliane, Kamenicky Peter, Soskin Sylvie, Boyer Olivia, Boros Emese, D'Anella Pascal, Mignot Brigitte, Gebhart Maite, Vic Philippe, Richard Nicolas, Thivichon-Prince Béatrice, Francou Bruno, Linglart Agnès, Bacchetta Justine, Molin Arnaud

Abstract excerpt

INTRODUCTION: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare genetic disease associated with loss-of-function variations in the gene encoding the vitamin D-activating enzyme 1α-hydroxylase (CYP27B1). Phenotype-genotype correlation is unclear. Long-term outcome data are lacking. The objective of this study was to describe characteristics and outcomes to search for a phenotype-genotype correlation. METHODS:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36321535
DOI: 10.1210/clinem/dgac639

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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