A Novel Homozygous Variant in the COMP Gene Causing a Multiple Epiphyseal Dysplasia 1 with Autosomal Recessive Inheritance

A Novel Homozygous Variant in the COMP Gene Causing a Multiple Epiphyseal Dysplasia 1 with Autosomal Recessive Inheritance

Multiple epiphyseal dysplasia type 1 is one of the most common autosomal dominant types of the genetically heterogeneous group of skeletal dysplasias characterized by impaired ossification of the epiphyses of long bones. To date, it is known that the disease is caused by heterozygous variants in the...

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Bibliographic Details
Main Authors: Tatiana Markova, Aysylu Murtazina, Vladimir Kenis, Evgenii Melchenko, Maria Ampleeva, Tatiana Nagornova, Aynur Alieva, Elena Dadali, Sergey Kutsev
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:International Journal of Translational Medicine
Subjects:
<i>COMP</i>
multiple epiphyseal dysplasia
myopathy
Online Access:https://www.mdpi.com/2673-8937/2/2/19

Internet

https://www.mdpi.com/2673-8937/2/2/19

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