Ładuje się......
Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel–Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects
The ciliopathies are a group of heterogeneous diseases with considerable variations in phenotype for allelic conditions such as Meckel–Gruber syndrome (MKS) and Joubert syndrome (JBTS) even at the inter-individual level within families. In humans, mutations in TMEM67 (also known as MKS3) cause both...
Zapisane w:
| Główni autorzy: | , , , , , , |
|---|---|
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Oxford University Press
2013
|
| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3596847/ https://ncbi.nlm.nih.gov/pubmed/23283079 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds546 |
| Etykiety: |
Dodaj etykietę
Nie ma etykietki, Dołącz pierwszą etykiete!
|