Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree

BACKGROUND: It has been reported that mutations in arginine vasopressin type 2 receptor (AVPR2) cause congenital X-linked nephrogenic diabetes insipidus (NDI). However, only a few cases of AVPR2 deletion have been documented in China. METHODS: An NDI pedigree was included in this study, including th...

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Detalles Bibliográficos
Autores principales: Bai, Ying, Chen, Yibing, Kong, Xiangdong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5797393/
https://www.ncbi.nlm.nih.gov/pubmed/29394883
http://dx.doi.org/10.1186/s12882-018-0825-5

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