Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth
About this item
Full title
Author / Creator
Cottrell, Catherine E. , Bender, Nicole R. , Zimmermann, Michael T. , Heusel, Jonathan W. , Corliss, Meagan , Evenson, Michael J. , Magrini, Vincent , Corsmeier, Donald J. , Avenarius, Matthew , Dudley, Jeffrey N. , Johnston, Jennifer J. , Lindhurst, Marjorie J. , Vigh-Conrad, Katinka , Davies, Olivia M.T. , Coughlin, Carrie C. , Frieden, Ilona J. , Tollefson, Megha , Zaenglein, Andrea L. , Ciliberto, Heather , Tosi, Laura L. , Semple, Robert K. , Biesecker, Leslie G. and Drolet, Beth A.
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
Somatic activating variants in the PI3K-AKT pathway cause vascular malformations with and without overgrowth. We previously reported an individual with capillary and lymphatic malformation harboring a pathogenic somatic variant in PIK3R1, which encodes three PI3K complex regulatory subunits. Here, we investigate PIK3R1 in a large cohort with vascul...
Alternative Titles
Full title
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth
Authors, Artists and Contributors
Author / Creator
Bender, Nicole R.
Zimmermann, Michael T.
Heusel, Jonathan W.
Corliss, Meagan
Evenson, Michael J.
Magrini, Vincent
Corsmeier, Donald J.
Avenarius, Matthew
Dudley, Jeffrey N.
Johnston, Jennifer J.
Lindhurst, Marjorie J.
Vigh-Conrad, Katinka
Davies, Olivia M.T.
Coughlin, Carrie C.
Frieden, Ilona J.
Tollefson, Megha
Zaenglein, Andrea L.
Ciliberto, Heather
Tosi, Laura L.
Semple, Robert K.
Biesecker, Leslie G.
Drolet, Beth A.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8486672
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8486672
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-021-01211-z
