Monozygotic twins concordant for Rubinstein-Taybi syndrome: changing phenotype during infancy.
We describe monozygotic twin sisters concordant for Rubinstein-Taybi syndrome diagnosed at the age of 10 weeks. The typical features of Rubinstein-Taybi syndrome in early infancy increasingly developed towards the total "Gestalt" at the age of 2 years and 10 months.
Preis
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Department of Pediatrics, Heinrich Heine Universität Düsseldorf, Germany.
Majewski
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F
D002675:Child, Preschool; D004200:Diseases in Twins; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*; D014430:Twins, Monozygotic