Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

Hamilton, Mark J

Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. [electronic resource] - Clinical dysmorphology Oct 2016 - 135-45 p. digital

Publication Type: Case Reports; Journal Article

1473-5717

10.1097/MCD.0000000000000143 doi


Adolescent
Amino Acid Sequence
CREB-Binding Protein--genetics
Child
Child, Preschool
E1A-Associated p300 Protein--genetics
Facies
Female
Genetic Association Studies
Genotype
Humans
Male
Mutation
Phenotype
Rubinstein-Taybi Syndrome--diagnosis
Sequence Analysis, DNA
Young Adult