A NOVEL MUTATION IN THE AVPR2 GENE (222delA) ASSOCIATED WITH X-LINKED NEPHROGENIC DIABETES INSIPIDUS IN A BOY WITH GROWTH FAILURE


ABACI A., Wood K., DEMİR K., Buyukgebiz A., BÖBER E., Kopp P.

ENDOCRINE PRACTICE, vol.16, no.2, pp.231-236, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 16 Issue: 2
  • Publication Date: 2010
  • Doi Number: 10.4158/ep09165.cr
  • Journal Name: ENDOCRINE PRACTICE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.231-236
  • Dokuz Eylül University Affiliated: Yes

Abstract

Objective: To study the case of a 2 10/12-year-old boy who had growth failure and delayed bone maturation.