TY  - GEN
AU  - Isik,Esra
AU  - Aykut,Ayca
AU  - Atik,Tahir
AU  - Cogulu,Ozgur
AU  - Ozkinay,Ferda
TI  - Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping
SN  - 1878-0849
PY  - 2020///0120
KW  - Alleles
KW  - Arthrogryposis
KW  - genetics
KW  - Codon, Nonsense
KW  - Genetic Testing
KW  - methods
KW  - Humans
KW  - Infant
KW  - Male
KW  - Molecular Chaperones
KW  - Penetrance
KW  - Exome Sequencing
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2018.09.011
ER  -