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pro vyhledávání: '"Christof Borchers"'
Autor:
Steven J.M. Jones, Stephen Yip, Christof Senger, William T. Gibson, Patrice Eydoux, Ana S A Cohen, Margaret L. McKinnon, Qing-San Xiang, Scott A. Lear, Jasna Levi, Raj Attariwala, Christof Borchers, Wayne Picker, Katelin N. Townsend, Siu-Li Yong, Amy Lum, Robert Everett, Lila Yewchuk, Joelle Tan
Publikováno v:
American Journal of Medical Genetics Part A. 164:2360-2364
We describe a patient who presented with a localized growth of mature fat tissue, which was surgically removed. MRI imaging identified diffuse increase in visceral adipose tissue. Targeted deep sequencing of the resected tissue uncovered a p.H1047R v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::762e2e9852a131ce30737942e5474667
https://doi.org/10.1002/ajmg.a.36622
https://doi.org/10.1002/ajmg.a.36622
