A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein-Taybi syndrome presenting with subtle dysmorphic features.
Chumei
C
Li
Marta
M
Szybowska
D000328:Adult; D050882:CREB-Binding Protein / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics* / Q000473:pathology*
D050882:CREB-Binding Protein; C494363:CREBBP protein, human