TY  - GEN
AU  - Ghosh,Shereen Georges
AU  - Wang,Lu
AU  - Breuss,Martin W
AU  - Green,Joshua D
AU  - Stanley,Valentina
AU  - Yang,Xiaoxu
AU  - Ross,Danica
AU  - Traynor,Bryan J
AU  - Alhashem,Amal M
AU  - Azam,Matloob
AU  - Selim,Laila
AU  - Bastaki,Laila
AU  - Elbastawisy,Hanan I
AU  - Temtamy,Samia
AU  - Zaki,Maha
AU  - Gleeson,Joseph G
TI  - Recurrent homozygous damaging mutation in 
SN  - 1468-6244
PY  - 2021///0204
KW  - Amino Acid Sequence
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Consanguinity
KW  - Endoplasmic Reticulum
KW  - Exons
KW  - Female
KW  - Genetic Predisposition to Disease
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Membrane Proteins
KW  - Microcephaly
KW  - Mutation
KW  - Protein Disulfide-Isomerases
KW  - Protein Folding
KW  - Thioredoxins
KW  - Exome Sequencing
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmedgenet-2019-106409
ER  -