Update on Kleefstra Syndrome

Kleefstra syndrome is characterized by the core phenotype of developmental delay/intellectual disability, (childhood) hypotonia and distinct facial features. The syndrome can be either caused by a microdeletion in chromosomal region 9q34.3 or by a mutation in the euchromatin histone methyltransferas...

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Detalhes bibliográficos
Main Authors: Willemsen, M.H., Vulto-van Silfhout, A.T., Nillesen, W.M., Wissink-Lindhout, W.M., van Bokhoven, H., Philip, N., Berry-Kravis, E.M., Kini, U., van Ravenswaaij-Arts, C.M.A., Delle Chiaie, B., Innes, A.M.M., Houge, G., Kosonen, T., Cremer, K., Fannemel, M., Stray-Pedersen, A., Reardon, W., Ignatius, J., Lachlan, K., Mircher, C., Helderman van den Enden, P.T.J.M., Mastebroek, M., Cohn-Hokke, P.E., Yntema, H.G., Drunat, S., Kleefstra, T.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2012
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Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3366700/
https://ncbi.nlm.nih.gov/pubmed/22670141
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000335648
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