Nalaganje...
Unraveling the genetics of Joubert and Meckel-Gruber syndromes
Joubert syndrome (JBTS) and Meckel-Gruber syndrome (MKS) are recessive neurodevelopmental conditions caused by mutations in proteins that are structural or functional components of the primary cilium. In this review, we provide an overview of their clinical diagnosis, management and molecular geneti...
Shranjeno v:
| izdano v: | J Pediatr Genet |
|---|---|
| Main Authors: | , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Georg Thieme Verlag KG
2014
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4340537/ https://ncbi.nlm.nih.gov/pubmed/25729630 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/PGE-14090 |
| Oznake: |
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