TY  - GEN
AU  - Masingue,Marion
AU  - Fauré,Julien
AU  - Solé,Guilhem
AU  - Stojkovic,Tanya
AU  - Léonard-Louis,Sarah
TI  - A novel nonsense PIEZO2 mutation in a family with scoliosis and proprioceptive defect
SN  - 1873-2364
PY  - 2020///0513
KW  - Arthrogryposis
KW  - genetics
KW  - Codon, Nonsense
KW  - Female
KW  - Humans
KW  - Ion Channels
KW  - Pedigree
KW  - Phenotype
KW  - Scoliosis
KW  - Siblings
KW  - Somatosensory Disorders
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.nmd.2018.10.005
ER  -