The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations

The first case report of CODAS syndrome in Chinese population caused by two LONP1 pathogenic mutations

Background: CODAS syndrome (MIM 600373) is a multi-system developmental disorder characterized by cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is rare in the world and no cases have been reported in Chinese population so far. Mutations in the LONP1 gene can contribute...

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Bibliographic Details
Main Authors: Yi Tang, Yu-Xing Liu, Yue Sheng, Liang-Liang Fan, Ai-Qian Zhang, Zhao-Fen Zheng
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-01-01
Series:Frontiers in Genetics
Subjects:
CODAS syndrome
LONP1
mutation
whole-exome sequencing
compound heterozygote
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.1031856/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.1031856/full

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