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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Detalles Bibliográficos
Autores principales: Luo, Minna, He, Ruida, Lin, Zaisheng, Shen, Yue, Zhang, Guangyu, Cao, Zongfu, Lu, Chao, Meng, Dan, Zhang, Jing, Ma, Xu, Cao, Muqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7592398/
https://www.ncbi.nlm.nih.gov/pubmed/33193692
http://dx.doi.org/10.3389/fgene.2020.576235

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7592398/
https://www.ncbi.nlm.nih.gov/pubmed/33193692
http://dx.doi.org/10.3389/fgene.2020.576235

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