TY  - GEN
AU  - Golas,Monika M
AU  - Auber,Bernd
AU  - Ripperger,Tim
AU  - Pabst,Brigitte
AU  - Schmidt,Gunnar
AU  - Morlot,Michel
AU  - Diebold,Uta
AU  - Steinemann,Doris
AU  - Schlegelberger,Brigitte
AU  - Morlot,Susanne
TI  - Looking for the hidden mutation: Bannayan-Riley-Ruvalcaba syndrome caused by constitutional and mosaic 10q23 microdeletions involving PTEN and BMPR1A
SN  - 1552-4833
PY  - 2020///0708
KW  - Adolescent
KW  - Bone Morphogenetic Protein Receptors, Type I
KW  - genetics
KW  - Chromosome Deletion
KW  - Chromosomes, Human, Pair 10
KW  - Female
KW  - Hamartoma Syndrome, Multiple
KW  - Humans
KW  - Male
KW  - Mosaicism
KW  - Mutation
KW  - PTEN Phosphohydrolase
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.61166
ER  -