Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A
Golas, Monika M., Auber, Bernd, Ripperger, Tim, Pabst, Brigitte, Schmidt, Gunnar, Morlot, Michel, Diebold, Uta, Steinemann, Doris, Schlegelberger, Brigitte, Morlot, SusanneJournal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.61166
Date:
May, 2019
File:
PDF, 2.66 MB
2019
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