A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

Jeune asphyxiating thoracic dystrophy (JATD) is a skeletal dysplasia characterized by a small thoracic cage and a range of skeletal and extra-skeletal anomalies. JATD is genetically heterogeneous with at least nine genes identified, all encoding ciliary proteins, hence the classification of JATD as...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Shaheen, Ranad, Schmidts, Miriam, Faqeih, Eissa, Hashem, Amal, Lausch, Ekkehart, Holder, Isabel, Superti-Furga, Andrea, Mitchison, Hannah M., Almoisheer, Agaadir, Alamro, Rana, Alshiddi, Tarfa, Alzahrani, Fatma, Beales, Philip L., Alkuraya, Fowzan S.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4321448/
https://ncbi.nlm.nih.gov/pubmed/25361962
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu555
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