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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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| Publicado en: | Front Genet |
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| Main Authors: | , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Frontiers Media S.A.
2020
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| Assuntos: | |
| Acceso en liña: | 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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