ea0090p685 | Pituitary and Neuroendocrinology | ECE2023
Sema Yaman kalender Derya
, Gasımlı Roya
, Subaşıoğlu Aslı
, Sercan Erturk Mehmet
, Cavdar Umit
, Gonca Oruk Guzide
, Onder Pamuk Barış
Background: William-Beuren region duplication syndrome (WBDS) is a rare multisystem disease caused by the gain on chromosome 7q and transmitted autosomal dominant, with approximately a population frequency of 1 in 13,000-20,000. The age of diagnosis is variable, but generally, it is diagnosed during childhood. It include endocrine (growth hormone deficiency) and non-endocrine (facial dysmorphology, cardiovascular problems, gastrointestinal and genitourinary problems, neurologi...