Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Cathy Blumhorst"'
Autor:
V. Reid Sutton, Susan M Huson, Joseph Geer, Victoria E. R. Parker, John M. Graham, Nancy Braverman, Elizabeth A. Sellars, Jamie L. Fraser, Eveliina Jakkula, Meena Balasubramanian, Kim M. Keppler-Noreuil, Cathy Blumhorst, Laura L. Tosi, Loren D.M. Pena, Thomas N. Darling, Richard W. Whitehouse, Robin D. Clark, Leslie G. Biesecker, Julie C. Sapp, Robert K. Semple, Marjorie J. Lindhurst, Andrew Y Shuen, Alex Henderson, Leslie Manace Brennan, Ian M. Grant, Vidya Krishnamurty, Kate Chandler, Yanick J. Crow, Zoran Gucev, Michael L. Cunningham, Velibor Tasic
Publikováno v:
American Journal of Medical Genetics. Part a
Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenita
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb3e3974e7f7b31d5fee886855a41b5
https://pubmed.ncbi.nlm.nih.gov/24782230
https://pubmed.ncbi.nlm.nih.gov/24782230
