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Items: 3

1.
Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus: Case report and pedigree analysis
Danxia Peng, Ying Dai, Xuan Xu
Medicine (Baltimore) 2019 Oct; 98(40): e17359. Published online 2019 Oct 4. doi: 10.1097/MD.0000000000017359
PMCID:
PMC6783171
AbstractArticlePDF–1.0M
2.
A Novel Mutation in the AVPR2 Gene Causing Congenital Nephrogenic Diabetes Insipidus
Aslı Çelebi Tayfur, Tuğçe Karaduman, Merve Özcan Türkmen, Dilara Şahin, Aysun Çaltık Yılmaz, Bahar Büyükkaragöz, Ayşe Derya Buluş, Hatice Mergen
J Clin Res Pediatr Endocrinol. 2018 Dec; 10(4): 350–356. Published online 2018 Nov 29. doi: 10.4274/jcrpe.0097
PMCID:
PMC6280332
AbstractArticlePDF–932K
3.
Contiguous 22.1-kb deletion embracing AVPR2 and ARHGAP4 genes at novel breakpoints leads to nephrogenic diabetes insipidus in a Chinese pedigree
Ying Bai, Yibing Chen, Xiangdong Kong
BMC Nephrol. 2018; 19: 26. Published online 2018 Feb 2. doi: 10.1186/s12882-018-0825-5
PMCID:
PMC5797393
AbstractArticlePDF–816K

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