New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients

Abstract Background Rubinstein‐Taybi syndrome (RSTS) is a rare congenital disorder characterized by broad thumbs and halluces, intellectual disability, distinctive facial features, and growth retardation. Clinical manifestations of RSTS are varied and overlap with other syndromes’ phenotype, which m...

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Hauptverfasser: Virginia Pérez‐Grijalba, Alberto García‐Oguiza, María López, Judith Armstrong, Sixto García‐Miñaur, Jose María Mesa‐Latorre, Mar O'Callaghan, Mercé Pineda Marfa, Maria Antonia Ramos‐Arroyo, Fernando Santos‐Simarro, Verónica Seidel, Elena Domínguez‐Garrido
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wiley 2019-11-01
Schriftenreihe:Molecular Genetics & Genomic Medicine
Schlagworte:
CREBBP
epigenetics
genotype–phenotype correlation
Rubinstein‐Taybi syndrome
Online Zugang:https://doi.org/10.1002/mgg3.972
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