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, cilt.16, sa.2, ss.231-236, 2010 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 16 Sayı: 2
  • Basım Tarihi: 2010
  • Doi Numarası: 10.4158/ep09165.cr
  • Dergi Adı: ENDOCRINE PRACTICE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.231-236
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

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