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

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

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 th...

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Bibliographic Details
Main Authors: Semra Gürsoy, Filiz Hazan, Ayça Aykut, Özlem Nalbantoğlu, Hüseyin Anıl Korkmaz, Korcan Demir, Behzat Özkan, Özgür Çoğulu
Format: Article
Language:English
Published: Galenos Yayincilik 2020-12-01
Series:JCRPE
Subjects:
shox gene
short stature
mlpa
sequence analysis
madelung’s deformity
hearing loss
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/detection-of-ishox-i-gene-variations-in-patients-w/37276

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http://www.jcrpe.org/archives/archive-detail/article-preview/detection-of-ishox-i-gene-variations-in-patients-w/37276

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