TY  - GEN
AU  - Balasubramanian,Meena
AU  - Johnson,Diana S
TI  - MAN1B-CDG: Novel variants with a distinct phenotype and review of literature
SN  - 1878-0849
PY  - 2019///0305
KW  - Child
KW  - Congenital Disorders of Glycosylation
KW  - genetics
KW  - Craniofacial Abnormalities
KW  - Developmental Disabilities
KW  - Female
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Syndrome
KW  - alpha-Mannosidase
N1  - Publication Type: Case Reports; Journal Article; Review
UR  - https://doi.org/10.1016/j.ejmg.2018.06.011
ER  -