Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene

Dominantly inherited mutations in COMP gene encoding cartilage oligomeric matrix protein may cause two dwarfing skeletal dysplasias, milder multiple epiphyseal dysplasia (MED) and more severe pseudoachondroplasia (PSACH). We studied the phenotype and X-rays of 11 patients from 5 unrelated families w...

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Principais autores:	Nabil El-Lababidi, Marie Zikánová, Alice Baxová, Lenka Nosková, Alena Leiská, Lukáš Lambert, Tomáš Honzík, Jiří Zeman
格式:	Artigo
语言:	Inglês
出版:	Karolinum Press 2020-10-01
丛编:	Prague Medical Report
主题:	short stature multiple epiphyseal dysplasia pseudoachondroplasia comp
在线阅读:	https://pmr.lf1.cuni.cz/121/3/0153/
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