TY  - GEN
AU  - Aggarwal,Anjali
AU  - Rodriguez-Buritica,David F
AU  - Northrup,Hope
TI  - Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature
SN  - 1878-0849
PY  - 2017///0807
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Child
KW  - Exome
KW  - Genotype
KW  - Histone-Lysine N-Methyltransferase
KW  - genetics
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Mutation
KW  - Myeloid-Lymphoid Leukemia Protein
KW  - Phenotype
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article; Review
UR  - https://doi.org/10.1016/j.ejmg.2017.03.006
ER  -