Ontology highlight
ABSTRACT:
SUBMITTER: Bai Y
PROVIDER: S-EPMC5797393 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Bai Ying Y Chen Yibing Y Kong Xiangdong X
BMC nephrology 20180202 1
<h4>Background</h4>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.<h4>Methods</h4>An NDI pedigree was included in this study, including the proband and his mother. All NDI patients had polyuria, polydipsia, and growth retardation. PCR mapping, long range PCR and sanger sequencing were used to identify genetic causes of NDI. ...[more]