Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities

Kabuki syndrome is a monogenic disorder caused by loss of function variants in either of two genes encoding histone-modifying enzymes. We performed targeted sequencing in a cohort of 27 probands with a clinical diagnosis of Kabuki syndrome. Of these, 12 had causative variants in the two known Kabuki...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Sobreira, Nara, Brucato, Martha, Zhang, Li, Ladd-Acosta, Christine, Ongaco, Chrissie, Romm, Jane, Doheny, Kimberly F, Mingroni-Netto, Regina C, Bertola, Debora, Kim, Chong A, Perez, Ana BA, Melaragno, Maria I, Valle, David, Meloni, Vera A, Bjornsson, Hans T
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5865196/
https://ncbi.nlm.nih.gov/pubmed/29255178
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0023-0
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