TY  - GEN
AU  - Woods,Susan A
AU  - Robinson,Haynes B
AU  - Kohler,Lisa J
AU  - Agamanolis,Dimitris
AU  - Sterbenz,George
AU  - Khalifa,Mohamed
TI  - Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome
SN  - 1552-4833
PY  - 2015///0413
KW  - Autopsy
KW  - De Lange Syndrome
KW  - diagnosis
KW  - Diagnosis, Differential
KW  - E1A-Associated p300 Protein
KW  - genetics
KW  - Exome
KW  - Facies
KW  - Fatal Outcome
KW  - Frameshift Mutation
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Male
KW  - Phenotype
KW  - Rubinstein-Taybi Syndrome
N1  - Publication Type: Case Reports; Journal Article; Review
UR  - https://doi.org/10.1002/ajmg.a.36237
ER  -