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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Detalles Bibliográficos
Autores principales: Heidari, Masoud, Soleyman-Nejad, Morteza, Isazadeh, Alireza, Taskiri, Mohammad Hossein, Bolhassani, Manzar, Sadighi, Nahid, Shiri, Zahra, Karimi, Zahra, Heidari, Mansour
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Mashhad University of Medical Sciences 2021
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8061321/
https://www.ncbi.nlm.nih.gov/pubmed/33953858
http://dx.doi.org/10.22038/IJBMS.2020.44487.10405

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