Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet–Biedl syndrome

Facial recognition is central to the diagnosis of many syndromes, and craniofacial patterns may reflect common etiologies. In the pleiotropic Bardet–Biedl syndrome (BBS), a primary ciliopathy with intraflagellar transport dysfunction, patients have a characteristic facial “gestalt” that dysmorpholog...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Tobin, Jonathan L., Di Franco, Matt, Eichers, Erica, May-Simera, Helen, Garcia, Monica, Yan, Jiong, Quinlan, Robyn, Justice, Monica J., Hennekam, Raoul C., Briscoe, James, Tada, Masazumi, Mayor, Roberto, Burns, Alan J., Lupski, James R., Hammond, Peter, Beales, Philip L.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2008
Assuntos:
Biological Sciences
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2373327/
https://ncbi.nlm.nih.gov/pubmed/18443298
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0707057105
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados