TY  - GEN
AU  - Matyas,Gabor
AU  - Naef,Paulina
AU  - Tollens,Martin
AU  - Oexle,Konrad
TI  - De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features
SN  - 1552-4833
PY  - 2015///0331
KW  - Animals
KW  - Arthrogryposis
KW  - genetics
KW  - Female
KW  - Growth Disorders
KW  - Humans
KW  - Loeys-Dietz Syndrome
KW  - Male
KW  - Marfan Syndrome
KW  - Muscle Weakness
KW  - Mutation
KW  - Transforming Growth Factor beta3
N1  - Publication Type: Letter; Research Support, Non-U.S. Gov't; Comment
UR  - https://doi.org/10.1002/ajmg.a.36593
ER  -