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Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances
Meckel–Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly syndrome caused by mutations in genes encoding proteins that are structural or functional components of the primary cilium. Conditions that are caused by mutations in ciliary genes are collectively termed the ciliopathie...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5701918/ https://www.ncbi.nlm.nih.gov/pubmed/29209597 http://dx.doi.org/10.3389/fped.2017.00244 |