Looking for the hidden mutation: Bannayan–Riley–Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A

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Metadaten
Author:Monika M. GolasORCiDGND, Bernd Auber, Tim Ripperger, Brigitte Pabst, Gunnar Schmidt, Michel Morlot, Uta Diebold, Doris Steinemann, Brigitte Schlegelberger, Susanne Morlot
Frontdoor URLhttps://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
Release Date:2022/05/16
Tag:Genetics (clinical); Genetics
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