Identification of a novel homozygous mutation in the DDR2 gene from a patient with spondylo-meta-epiphyseal dysplasia by whole exome sequencing

Identification of a novel homozygous mutation in the DDR2 gene from a patient with spondylo-meta-epiphyseal dysplasia by whole exome sequencing

Objective(s): The spondylo-meta-epiphyseal dysplasia (SMED) short limbs-hand type is a rare autosomal recessive disease, which is characterized by premature calcification leading to severe disproportionate short stature and various skeletal changes. Defective function of a conserved region encoding...

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Bibliographic Details
Main Authors: Masoud Heidari, Morteza Soleyman-Nejad, Alireza Isazadeh, Mohammad Hossein Taskiri, Manzar Bolhassani, Nahid Sadighi, Zahra Shiri, Zahra Karimi, Mansour Heidari
Format: Article
Language:English
Published: Mashhad University of Medical Sciences 2021-02-01
Series:Iranian Journal of Basic Medical Sciences
Subjects:
ddr2 gene in silico sanger sequencing splice
site mutation spondylo
meta
epiphyseal dysplasia whole exome sequencing
Online Access:https://ijbms.mums.ac.ir/article_17190_92eab85991367fe107bd9942fc5bb248.pdf

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https://ijbms.mums.ac.ir/article_17190_92eab85991367fe107bd9942fc5bb248.pdf

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