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pro vyhledávání: '"Anna Buser"'
Autor:
Alexander M. Cartron, BS, Deeti J. Pithadia, MD, Anna Buser, BS, Leslie G. Biesecker, MD, Thomas N. Darling, MD, PhD
Publikováno v:
JAAD Case Reports, Vol 6, Iss 10, Pp 1072-1074 (2020)
Externí odkaz:
https://doaj.org/article/0ba6ae5b91eb4ebab91d2baea53d84c3
Publikováno v:
JAAD Case Reports
JAAD Case Reports, Vol 6, Iss 10, Pp 1072-1074 (2020)
JAAD Case Reports, Vol 6, Iss 10, Pp 1072-1074 (2020)
Autor:
Anna Buser, Leslie G. Biesecker, Julie C. Sapp, Marjorie J. Lindhurst, Hannah C. Kondolf, Miranda R. Yourick, Kim M. Keppler-Noreuil
Publikováno v:
Cold Spring Harb Mol Case Stud
Proteus syndrome is a mosaic disorder that can cause progressive postnatal overgrowth of nearly any organ or tissue. To date, Proteus syndrome has been exclusively associated with the mosaic c.49G > A p.(Glu17Lys) pathogenic variant in AKT1, a varian
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ddb6bed9a61afe2f7bd7020de3af339
https://europepmc.org/articles/PMC7304363/
https://europepmc.org/articles/PMC7304363/