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Article

Genome-wide sequencing expands the phenotypic spectrum of EP300 variants.

European journal of medical genetics - 1 Mar 2018

Costain Gregory, Kannu Peter, Bowdin Sarah

Abstract excerpt

Many disease genes are defined by their role in causing specific clinically recognizable syndromes. Heterozygous loss of function of the gene EP300 is responsible for a minority of cases of Rubinstein-Taybi syndrome (RSTS). With the application of whole-exome sequencing and whole-genome sequencing, there is the potential to discover new genotype-phenotype correlations. The purpose of this case series is to...

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Identifiers

PMID: 29133209
DOI: 10.1016/j.ejmg.2017.11.002

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