A Novel Compound Nonsense Variant in CYP27B1 Causes an Atypical Form of Vitamin D-Dependent Rickets Type 1A: A Case Report of Two Siblings in a Mexican Family
CYP27B1基因中一种新型复合无义突变导致非典型维生素D依赖性佝偻病1A型：墨西哥一个家庭中两兄妹的病例报告
期刊:Diseases
影响因子:3
doi:10.3390/diseases12100248
Toral López, Jaime; Candia Tenopala, Cesar; Reyes Mosqueda, Alix Daniela; Fonseca Sánchez, Miguel Ángel; González Huerta, Luz María
