TY  - GEN
AU  - Kaur,Maninder
AU  - Mehta,Devanshi
AU  - Noon,Sarah E
AU  - Deardorff,Matthew A
AU  - Zhang,Zhe
AU  - Krantz,Ian D
TI  - NIPBL expression levels in CdLS probands as a predictor of mutation type and phenotypic severity
SN  - 1552-4876
PY  - 2017///1003
KW  - Cell Cycle Proteins
KW  - De Lange Syndrome
KW  - diagnosis
KW  - Female
KW  - Gene Expression Regulation
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Polymerase Chain Reaction
KW  - Proteins
KW  - analysis
KW  - Severity of Illness Index
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1002/ajmg.c.31495
ER  -