A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation

BACKGROUND: To identify novel clinical phenotypic signatures of congenital nephrogenic diabetes insipidus (CNDI). METHODS: A Chinese family with CNDI was recruited for participation in this study. The proband and one of his uncles suffered from polydipsia and polyuria since infancy. The results of c...

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Detalles Bibliográficos
Autores principales: Zang, Li, Gong, Yuping, Li, Yijun, Dou, Jingtao, Lyu, Zhaohui, Su, Xiaoqing, Zhang, Yawei, Mu, Yiming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9296320/
https://www.ncbi.nlm.nih.gov/pubmed/35865667
http://dx.doi.org/10.1155/2022/7073158

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