Article
Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature
Journal of clinical research in pediatric endocrinology - 25 Nov 2020
Gürsoy Semra, Hazan Filiz, Aykut Ayça, Nalbantoğlu Özlem, Korkmaz Hüseyin Anıl, Demir Korcan, Özkan Behzat, Çoğulu Özgür
Abstract excerpt
Objective: SHOX gene mutations constitute one of the genetic causes of short stature. The clinical phenotype includes variable degrees of growth impairment, such as Langer mesomelic dysplasia (LMD), Léri-Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS). The aim of this study was to describe the clinical features and molecular results of SHOX deficiency in a group of Turkish patients who had...
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