Výsledky vyhledávání - "Boycott, Kim M."

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome

Autor: Mirzaa, Ghayda M, Parry, David A, Fry, Andrew E, Giamanco, Kristin A, Schwartzentruber, Jeremy, Vanstone, Megan, Logan, Clare V., Roberts, Nicola, Johnson, Colin A., Singh, Shawn, Kholmanskikh, Stanislav S., Adams, Carissa, Hodge, Rebecca D., Hevner, Robert F., Bonthron, David T., Braun, Kees P J, Faivre, Laurence, Rivière, Jean-Baptiste, St-Onge, Judith, Gripp, Karen W., Mancini, Grazia M S, Pang, Ki, Sweeney, Elizabeth, van Esch, Hilde, Verbeek, Nienke, Wieczorek, Dagmar, Steinraths, Michelle, Majewski, Jacek, Boycott, Kim M., Pilz, Daniela T., Ross, Elizabeth, Dobyns, William B., Sheridan, Eamonn G., Friedman, J., Michaud, J., Bernier, F., Brudno, M., Fernandez, B., Knoppers, B., Samuels, M., Scherer, S.

Publikováno v: Nature Genetics, 46(5), 510-515. Nature Publishing Group
Nature genetics

Activating mutations in genes encoding phosphatidylinositol 3-kinase (PI3K)-AKT pathway components cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome (MPPH, OMIM 603387)(1-3). Here we report that individuals with MPPH lacking upst

Vyhledávací nástroje:

Upřesnit hledání