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