Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Vidya Krishnamurty"'
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
Publikováno v:
Academic Psychiatry; Apr2021, Vol. 45 Issue 2, p224-230, 7p
Autor:
Keppler‐Noreuil, Kim M., Sapp, Julie C., Lindhurst, Marjorie J., Parker, Victoria E.R., Blumhorst, Cathy, Darling, Thomas, Tosi, Laura L., Huson, Susan M., Whitehouse, Richard W., Jakkula, Eveliina, Grant, Ian, Balasubramanian, Meena, Chandler, Kate E., Fraser, Jamie L., Gucev, Zoran, Crow, Yanick J., Brennan, Leslie Manace, Clark, Robin, Sellars, Elizabeth A., Pena, Loren DM
Publikováno v:
American Journal of Medical Genetics. Part A; Jul2014, Vol. 164A Issue 7, p1713-1733, 21p