TY  - GEN
AU  - Cozijnsen,Luc
AU  - Plomp,Astrid S
AU  - Post,Jan G
AU  - Pals,Gerard
AU  - Bogunovic,Natalija
AU  - Yeung,Kak K
AU  - Niessen,Hans W M
AU  - Goumans,Marie-José T H
AU  - Barge-Schaapveld,Daniela Q C M
AU  - Micha,Dimitra
TI  - Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome
SN  - 2324-9269
PY  - 2020///0622
KW  - Actins
KW  - genetics
KW  - Adult
KW  - Cell Transdifferentiation
KW  - Female
KW  - Fibroblasts
KW  - cytology
KW  - Humans
KW  - Loeys-Dietz Syndrome
KW  - diagnosis
KW  - Male
KW  - Middle Aged
KW  - Myosin Heavy Chains
KW  - Pedigree
KW  - Polymorphism, Single Nucleotide
KW  - Receptor, Transforming Growth Factor-beta Type I
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/mgg3.943
ER  -