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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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| 發表在: | Front Genet |
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| Main Authors: | , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Frontiers Media S.A.
2020
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| 主題: | |
| 在線閱讀: | 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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