Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia

Case Report: Whole-exome sequencing identified two novel COMP variants causing pseudoachondroplasia

Pseudoachondroplasia (PSACH) is a rare, dominant genetic disorder affecting bone and cartilage development, characterized by short-limb short stature, brachydactyly, loose joints, joint stiffness, and pain. The disorder is caused by mutations in the COMP gene, which encodes a protein that plays a ro...

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Bibliographic Details
Main Authors:	Lin Zhou, Jing Chen, Qian Liu, Shuting Yang, Wanqin Xie, Ying Peng
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-11-01
Series:	Frontiers in Endocrinology
Subjects:	pseudoachondroplasia comp whole-exome sequencing case report novel missense variants
Online Access:	https://www.frontiersin.org/articles/10.3389/fendo.2023.1267946/full

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