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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Vydáno v:Front Genet
Hlavní autoři: Luo, Minna, He, Ruida, Lin, Zaisheng, Shen, Yue, Zhang, Guangyu, Cao, Zongfu, Lu, Chao, Meng, Dan, Zhang, Jing, Ma, Xu, Cao, Muqing
Médium: Artigo
Jazyk:Inglês
Vydáno: Frontiers Media S.A. 2020
Témata:
Genetics
On-line přístup: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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