Detection of <italic>SHOX</italic> Gene Variations in Patients with Skeletal Abnormalities with or without Short Stature

• Glavni autori: Semra Gürsoy (Autor), Filiz Hazan (Autor), Ayça Aykut (Autor), Özlem Nalbantoğlu (Autor), Hüseyin Anıl Korkmaz (Autor), Korcan Demir (Autor), Behzat Özkan (Autor), Özgür Çoğulu (Autor)
• Format: Knjiga
• Izdano: Galenos Yayincilik, 2020-12-01T00:00:00Z.
• Teme: article
• Online pristup: Connect to this object online.

Objective:<i>SHOX</i> 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 t...