Article
A novel mutation in the AVPR2 gene (222delA) associated with X-linked nephrogenic diabetes insipidus in a boy with growth failure.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 1 Jan 2000
Abaci Ayhan, Wood Kent, Demir Korcan, Büyükgebiz Atilla, Böber Ece, Kopp Peter
Abstract excerpt
OBJECTIVE: To study the case of a 2 10/12-year-old boy who had growth failure and delayed bone maturation. METHODS: We reviewed the history, which revealed that he had had polyuria, polydipsia, lack of weight gain, and frequent vomiting since the age of 5 months. On physical examination, his height was 86 cm (-1.93 standard deviation [SD]), his weight 10.5 kg (-2.67 SD), and he had motor and mental retardation....
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