Article
[Clinical characteristics and molecular genetics of seven neonates with congenital nephrogenic diabetes insipidus].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2021
Dong Xiaoyun, Dong Huiru, Kang Wenqing, Xiong Hong, Xu Bangli, Lin Fatao, Zheng Xuan
Abstract excerpt
OBJECTIVE: To explore the clinical characteristics, genetic basis and clinical treatment of seven neonates with congenital nephrogenic diabetes insipidus (NDI). METHODS: Clinical data of the patients were collected. High-throughput sequencing was carried out to detect potential variants. Sanger sequencing was used to verify the results. RESULTS: The patients were all males, with the age of onset being 10 to 21...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.