TY  - GEN
AU  - Hamilton,Mark J
AU  - Newbury-Ecob,Ruth
AU  - Holder-Espinasse,Muriel
AU  - Yau,Shu
AU  - Lillis,Suzanne
AU  - Hurst,Jane A
AU  - Clement,Emma
AU  - Reardon,William
AU  - Joss,Shelagh
AU  - Hobson,Emma
AU  - Blyth,Moira
AU  - Al-Shehhi,Maryam
AU  - Lynch,Sally A
AU  - Suri,Mohnish
TI  - Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum
SN  - 1473-5717
PY  - 2017///0206
KW  - Adolescent
KW  - Amino Acid Sequence
KW  - CREB-Binding Protein
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - E1A-Associated p300 Protein
KW  - Facies
KW  - Female
KW  - Genetic Association Studies
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Phenotype
KW  - Rubinstein-Taybi Syndrome
KW  - diagnosis
KW  - Sequence Analysis, DNA
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1097/MCD.0000000000000143
ER  -