Dissecting KMT2D missense mutations in Kabuki syndrome patients

Kabuki syndrome is a rare autosomal dominant condition characterized by facial features, various organs malformations, postnatal growth deficiency and intellectual disability. The discovery of frequent germline mutations in the histone methyltransferase KMT2D and the demethylase KDM6A revealed a cau...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Cocciadiferro, Dario, Augello, Bartolomeo, De Nittis, Pasquelena, Zhang, Jiyuan, Mandriani, Barbara, Malerba, Natascia, Squeo, Gabriella M, Romano, Alessandro, Piccinni, Barbara, Verri, Tiziano, Micale, Lucia, Pasqualucci, Laura, Merla, Giuseppe
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6488975/
https://ncbi.nlm.nih.gov/pubmed/30107592
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy241
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