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

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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Bibliographic Details
Main Authors: Nabil El-Lababidi, Marie Zikánová, Alice Baxová, Lenka Nosková, Alena Leiská, Lukáš Lambert, Tomáš Honzík, Jiří Zeman
Format: Article
Language:English
Published: Karolinum Press 2020-10-01
Series:Prague Medical Report
Subjects:
short stature
multiple epiphyseal dysplasia
pseudoachondroplasia
comp
Online Access:https://pmr.lf1.cuni.cz/121/3/0153/

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