Tissue-specific mosaicism in a patient with Rubinstein–Taybi syndrome and CREBBP exon 1 duplication

6533b829fe1ef96bd128accc

RESEARCH PRODUCT

Tissue-specific mosaicism in a patient with Rubinstein–Taybi syndrome and CREBBP exon 1 duplication

Oliver Bartsch Nevenka Laban Aleksandar Saveski Zoran Gucev Velibor B. Tasic Momir Polenakovic Ulrich Zechner

subject

Rubinstein-Taybi Syndrome Genetics Rubinstein–Taybi syndrome Mosaicism business.industry Facies Exons General Medicine medicine.disease CREB-Binding Protein Pathology and Forensic Medicine Exon Organ Specificity Gene Duplication Pediatrics Perinatology and Child Health Gene duplication medicine Humans Tissue specific Female Anatomy Child business E1A-Associated p300 Protein Genetics (clinical)

year	journal	country	edition	language
2019-07-01	Clinical Dysmorphology

https://doi.org/10.1097/mcd.0000000000000268

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