ea0020p527 | Paediatric Endocrinology | ECE2009
Coker Ajda
, Arman Ahmet
, Sarioz Ozlem
, Yuksel Bilgin
, Ozon Alev
Background: Laron syndrome (LS) is an autosomal recessive disease characterized by severe postnatal growth failure, short stature, normal or elevated serum GH, and low levels of IGF-I and IGF binding protein-3 (IGFBP-3). The disorder is caused by dysfunction of the growth hormone receptor resulted from mutations in GHR gene.Objective: Purpose of this research was to describe mutations on GHR gene in five children with Laron syndrome.<p class="abstext...