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

Clin Dysmorphol. 2019 Jul;28(3):142-144. doi: 10.1097/MCD.0000000000000268.

Authors

Zoran S Gucev¹, Velibor B Tasic¹, Aleksandar Saveski¹, Momir H Polenakovic², Nevenka B Laban¹, Ulrich Zechner³, Oliver Bartsch³

Affiliations

¹ Medical Faculty Skopje, Skopje, Macedonia.
² Macedonian Academy of Sciences and Arts (MASA), Skopje, Macedonia.
³ Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University, Mainz, Mainz, Germany.

PMID: 30921089
DOI: 10.1097/MCD.0000000000000268

No abstract available

MeSH terms

CREB-Binding Protein / genetics*
Child
E1A-Associated p300 Protein / genetics
Exons / genetics
Facies
Female
Gene Duplication / genetics
Humans
Mosaicism
Organ Specificity / genetics
Rubinstein-Taybi Syndrome / genetics*

Substances

CREB-Binding Protein
CREBBP protein, human
E1A-Associated p300 Protein
EP300 protein, human