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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Bibliografiset tiedot
Julkaisussa:J Med Genet
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMJ Publishing Group 2016
Aiheet:
Developmental Defects
Linkit: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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