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...

詳細記述

書誌詳細

主要な著者:	Tatiana Markova, Aysylu Murtazina, Vladimir Kenis, Evgenii Melchenko, Maria Ampleeva, Tatiana Nagornova, Aynur Alieva, Elena Dadali, Sergey Kutsev
フォーマット:	Artigo
言語:	Inglês
出版事項:	MDPI AG 2022-06-01
シリーズ:	International Journal of Translational Medicine
主題:	<i>COMP</i> multiple epiphyseal dysplasia myopathy
オンライン･アクセス:	https://www.mdpi.com/2673-8937/2/2/19
タグ:	タグ追加 タグなし, このレコードへの初めてのタグを付けませんか!