RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex

Polymicrogyria is a malformation of the developing cerebral cortex caused by abnormal organization and characterized by many small gyri and fusion of the outer molecular layer. We have identified autosomal-recessive mutations in RTTN, encoding Rotatin, in individuals with bilateral diffuse polymicro...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Main Authors: Kheradmand Kia, Sima, Verbeek, Elly, Engelen, Erik, Schot, Rachel, Poot, Raymond A., de Coo, Irenaeus F.M., Lequin, Maarten H., Poulton, Cathryn J., Pourfarzad, Farzin, Grosveld, Frank G., Brehm, António, de Wit, Marie Claire Y., Oegema, Renske, Dobyns, William B., Verheijen, Frans W., Mancini, Grazia M.S.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2012
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3511998/
https://ncbi.nlm.nih.gov/pubmed/22939636
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.07.008
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker