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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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2016
Assuntos:
Developmental Defects
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5013089/
https://ncbi.nlm.nih.gov/pubmed/27208211
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-103832
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