Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum

Rubinstein–Taybi syndrome is associated with intellectual and physical features. CREBBP and EP300 are causative. Few cases of EP300 mutations are reported. We report a case with mild features of RSTS and EP300 mutation on exome sequencing. This illustrates the utility of exome sequencing to expand e...

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Detalles Bibliográficos
Autores principales: Sellars, Elizabeth A., Sullivan, Bonnie R., Schaefer, G. Bradley
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929809/
https://www.ncbi.nlm.nih.gov/pubmed/27386132
http://dx.doi.org/10.1002/ccr3.598
Descripción
Sumario:Rubinstein–Taybi syndrome is associated with intellectual and physical features. CREBBP and EP300 are causative. Few cases of EP300 mutations are reported. We report a case with mild features of RSTS and EP300 mutation on exome sequencing. This illustrates the utility of exome sequencing to expand every genetic phenotype.

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