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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Bibliografiska uppgifter
I publikationen:Front Genet
Huvudupphovsmän: Luo, Minna, He, Ruida, Lin, Zaisheng, Shen, Yue, Zhang, Guangyu, Cao, Zongfu, Lu, Chao, Meng, Dan, Zhang, Jing, Ma, Xu, Cao, Muqing
Materialtyp: Artigo
Språk:Inglês
Publicerad: Frontiers Media S.A. 2020
Ämnen:
Genetics
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7592398/
https://ncbi.nlm.nih.gov/pubmed/33193692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.576235
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