CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study

BACKGROUND: Oral-facial-digital type 1 syndrome (OFD1; OMIM 311200) belongs to the expanding group of disorders ascribed to ciliary dysfunction. With the aim of contributing to the understanding of the role of primary cilia in the central nervous system (CNS), we performed a thorough characterizatio...

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Detaylı Bibliyografya
Asıl Yazarlar: Del Giudice, Ennio, Macca, Marina, Imperati, Floriana, D’Amico, Alessandra, Parent, Philippe, Pasquier, Laurent, Layet, Valerie, Lyonnet, Stanislas, Stamboul-Darmency, Veronique, Thauvin-Robinet, Christel, Franco, Brunella
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2014
Konular:
Research
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4113190/
https://ncbi.nlm.nih.gov/pubmed/24884629
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-9-74
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