CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related Disorders

Joubert syndrome–related disorders (JSRDs) are a group of clinically and genetically heterogeneous conditions that share a midbrain-hindbrain malformation, the molar tooth sign (MTS) visible on brain imaging, with variable neurological, ocular, and renal manifestations. Mutations in the CEP290 gene...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Brancati, Francesco , Barrano, Giuseppe , Silhavy, Jennifer L. , Marsh, Sarah E. , Travaglini, Lorena , Bielas, Stephanie L. , Amorini, Maria , Zablocka, Dominika , Kayserili, Hulya , Al-Gazali, Lihadh , Bertini, Enrico , Boltshauser, Eugen , D’Hooghe, Marc , Fazzi, Elisa , Fenerci, Elif Y. , Hennekam, Raoul C. M. , Kiss, Andrea , Lees, Melissa M. , Marco, Elysa , Phadke, Shubha R. , Rigoli, Luciana , Romano, Stephane , Salpietro, Carmelo D. , Sherr, Elliott H. , Signorini, Sabrina , Stromme, Petter , Stuart, Bernard , Sztriha, Laszlo , Viskochil, David H. , Yuksel, Adnan , Dallapiccola, Bruno , Valente, Enza Maria , Gleeson, Joseph G. 
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Human Genetics 2007
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1950920/
https://ncbi.nlm.nih.gov/pubmed/17564967
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados