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pro vyhledávání: '"Cesar Candia Tenopala"'
Autor:
Jaime Toral López, Cesar Candia Tenopala, Alix Daniela Reyes Mosqueda, Miguel Ángel Fonseca Sánchez, Luz María González Huerta
Publikováno v:
Diseases, Vol 12, Iss 10, p 248 (2024)
Background: Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27B1 gene, typically characterized by growth failure, rickets, leg bowing, fracture, seizures, hyperparathyroidism
Externí odkaz:
https://doaj.org/article/dd663cc418184877ab2545e47b655cb2
