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Two novel TCTN2 mutations cause Meckel–Gruber syndrome
Meckel–Gruber syndrome (MKS) is a clinically and genetically heterogeneous ciliopathy characterized by a triad of occipital encephalocele, polycystic kidneys, and postaxial polydactyly. Pathogenesis of MKS is related to dysfunction of primary cilia. However, reports on MKS caused by Tectonic2 (TCTN2...
Shranjeno v:
| izdano v: | J Hum Genet |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Springer Singapore
2020
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7527272/ https://ncbi.nlm.nih.gov/pubmed/32655147 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-020-0804-0 |
| Oznake: |
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