CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

已完结 10 由 LYQ 发布于 2025/5/22 10:23:04

DOI:10.1016/j.ajhg.2014.12.003
作者：American journal of human genetics
文献类型：期刊论文
补充材料：只需要正文
文献链接：https://doi.org/10.1016/j.ajhg.2014.12.003

Elsevier

Abstract：CODAS syndrome is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. Using whole-exome and Sanger sequencing, we identified f

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