Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB

Cole-Carpenter syndrome is a severe bone fragility disorder that is characterized by frequent fractures, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. To identify the cause of Cole-Carpenter syndrome in the two individuals whose clinical results were presented i...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Rauch, Frank, Fahiminiya, Somayyeh, Majewski, Jacek, Carrot-Zhang, Jian, Boudko, Sergei, Glorieux, Francis, Mort, John S., Bächinger, Hans-Peter, Moffatt, Pierre
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4375435/
https://ncbi.nlm.nih.gov/pubmed/25683117
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.12.027
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