TY  - GEN
AU  - Vega,H
AU  - Trainer,A H
AU  - Gordillo,M
AU  - Crosier,M
AU  - Kayserili,H
AU  - Skovby,F
AU  - Uzielli,M L Giovannucci
AU  - Schnur,R E
AU  - Manouvrier,S
AU  - Blair,E
AU  - Hurst,J A
AU  - Forzano,F
AU  - Meins,M
AU  - Simola,K O J
AU  - Raas-Rothschild,A
AU  - Hennekam,R C M
AU  - Jabs,E Wang
TI  - Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome
SN  - 1468-6244
PY  - 2010///0304
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Acetyltransferases
KW  - Chromosomal Proteins, Non-Histone
KW  - Codon
KW  - Craniofacial Abnormalities
KW  - Developmental Disabilities
KW  - Female
KW  - Gene Expression
KW  - Genetic Variation
KW  - Humans
KW  - Infant
KW  - Intellectual Disability
KW  - Male
KW  - Mutation, Missense
KW  - Phenotype
KW  - Protein Structure, Tertiary
KW  - Sequence Deletion
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2009.068395
ER  -