Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study

• Autores principales: Yunting Lin (Autor), Zhihong Guan (Autor), Huifen Mei (Autor), Wen Zhang (Autor), Zhizi Zhou (Autor), Ling Su (Autor), Jing Cheng (Autor), Ruidan Zheng (Autor), Cuili Liang (Autor), Yanna Cai (Autor), Xi Yin (Autor), Dongyan Wu (Autor), Li Liu (Autor), Chunhua Zeng (Autor)
• Formato: Libro
• Publicado: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

PurposeVitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by deficiency of the CYP27B1 gene. This study aims to investigate the phenotypic and genotypic features of VDDR1A children in southern China and evaluate the long-term therapeutic effects.MethodsTwelve...