Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome

Novel Compound Heterozygous Variants in MKS1 Leading to Joubert Syndrome

Joubert syndrome (JBTS) and Meckel–Gruber syndrome (MKS) are rare recessive disorders caused by defects of cilia, and they share overlapping clinical features and allelic loci. Mutations of MKS1 contribute approximately 7% to all MKS cases and are found in some JBTS patients. Here, we describe a JBT...

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Bibliographic Details
Main Authors: Minna Luo, Ruida He, Zaisheng Lin, Yue Shen, Guangyu Zhang, Zongfu Cao, Chao Lu, Dan Meng, Jing Zhang, Xu Ma, Muqing Cao
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-10-01
Series:Frontiers in Genetics
Subjects:
cilia
ciliopathy
Joubert syndrome
B9 proteins
MKS1
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.576235/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.576235/full

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