Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A
| Author: | Monika M. GolasORCiDGND, Bernd Auber, Tim Ripperger, Brigitte Pabst, Gunnar Schmidt, Michel Morlot, Uta Diebold, Doris Steinemann, Brigitte Schlegelberger, Susanne Morlot |
|---|---|
| Frontdoor URL | https://opus.bibliothek.uni-augsburg.de/opus4/95042 |
| ISSN: | 1552-4825OPAC |
| ISSN: | 1552-4833OPAC |
| Parent Title (English): | American Journal of Medical Genetics Part A |
| Publisher: | Wiley |
| Type: | Article |
| Language: | English |
| Year of first Publication: | 2019 |
| Publishing Institution: | Universität Augsburg |
| Release Date: | 2022/05/16 |
| Tag: | Genetics; Genetics (clinical) |
| Volume: | 179 |
| Issue: | 7 |
| First Page: | 1383 |
| Last Page: | 1389 |
| DOI: | https://doi.org/10.1002/ajmg.a.61166 |
| Institutes: | Medizinische Fakultät |
| Medizinische Fakultät / Universitätsklinikum | |
| Medizinische Fakultät / Lehrstuhl für Humangenetik |
