TY  - GEN
AU  - Schwartz,Talia S
AU  - Wojcik,Monica H
AU  - Pelletier,Renee C
AU  - Edward,Heather L
AU  - Picker,Jonathan D
AU  - Holm,Ingrid A
AU  - Towne,Meghan C
AU  - Beggs,Alan H
AU  - Agrawal,Pankaj B
TI  - Expanding the phenotypic spectrum associated with OPHN1 variants
SN  - 1878-0849
PY  - 2019///0305
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Craniofacial Abnormalities
KW  - genetics
KW  - Cytoskeletal Proteins
KW  - Developmental Disabilities
KW  - Diagnosis, Differential
KW  - GTPase-Activating Proteins
KW  - Genetic Testing
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Nuclear Proteins
KW  - Phenotype
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ejmg.2018.06.015
ER  -