Update on Kleefstra Syndrome

Autor: Elizabeth Berry-Kravis, Willie Reardon, P.E. Cohn-Hokke, H Van Bokhoven, Marjolein H. Willemsen, A.M.M. Innes, N. Philip, Kirsten Cremer, C.M.A. van Ravenswaaij-Arts, A.T. Vulto-van Silfhout, S. Drunat, Usha Kini, T. Kosonen, Katherine Lachlan, Jaakko Ignatius, P.T.J.M. Helderman van den Enden, Madeleine Fannemel, M. Mastebroek, C. Mircher, Gunnar Houge, B. Delle Chiaie, Willemijn M. Wissink-Lindhout, Willy M. Nillesen, Asbjørg Stray-Pedersen, Tjitske Kleefstra, Helger G. Yntema

Publikováno v: Molecular Syndromology, 2, 202-212
Molecular Syndromology, 2, 3-5, pp. 202-212
Molecular syndromology, 2(3-5), 202-212. S. Karger AG

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 mu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d5a769b0662840f84a415ec12fee6d2
https://pubmed.ncbi.nlm.nih.gov/22670141