Ontology highlight
ABSTRACT:
SUBMITTER: Tajima A
PROVIDER: S-EPMC4004929 | biostudies-literature | 2005
REPOSITORIES: biostudies-literature
Tajima Asako A Miyata Ichiro I Katayama Akira A Toyoda Shigeru S Eto Yoshikatsu Y
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 20050214 1
We have identified a novel mutation of the arginine vasopressin receptor 2 (AVPR2) gene in a case of congenital X-linked nephrogenic diabetes insipidus (NDI). The patient was a 2-mo-old Japanese boy with persistent fever and failure to thrive. He was diagnosed as having congenital NDI by clinical and laboratory findings. Molecular analysis demonstrated that he was hemizygous for a G to C transversion in exon 2 of the AVPR2 gene which resulted in a glycine to arginine substitution (G107R) at the ...[more]