A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features
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Overview
status
publication date
- November 2010
has subject area
- 0604 Genetics (FoR)
- 1103 Clinical Sciences (FoR)
- Adult (MeSH)
- CREB-Binding Protein (MeSH)
- Female (MeSH)
- Humans (MeSH)
- Infant (MeSH)
- Infant, Newborn (MeSH)
- Male (MeSH)
- Mutation (MeSH)
- Phenotype (MeSH)
- Pregnancy (MeSH)
- Rubinstein-Taybi Syndrome (MeSH)