Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes

BACKGROUND: Ciliopathies are an extensive group of autosomal recessive or X-linked disorders with considerable genetic and clinical overlap, which collectively share multiple organ involvement and may result in lethal or viable phenotypes. In large numbers of cases the genetic defect remains yet to...

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Detalles Bibliográficos
Autores principales: Roosing, Susanne, Romani, Marta, Isrie, Mala, Rosti, Rasim Ozgur, Micalizzi, Alessia, Musaev, Damir, Mazza, Tommaso, Al-gazali, Lihadh, Altunoglu, Umut, Boltshauser, Eugen, D'Arrigo, Stefano, De Keersmaecker, Bart, Kayserili, Hülya, Brandenberger, Sarah, Kraoua, Ichraf, Mark, Paul R, McKanna, Trudy, Van Keirsbilck, Joachim, Moerman, Philippe, Poretti, Andrea, Puri, Ratna, Van Esch, Hilde, Gleeson, Joseph G, Valente, Enza Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Developmental Defects
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5013089/
https://www.ncbi.nlm.nih.gov/pubmed/27208211
http://dx.doi.org/10.1136/jmedgenet-2016-103832

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