Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report

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Title
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report
Authors
Keywords
CREB binding protein, Novel mutation, Rubinstein-Taybi syndrome, Targeted exome sequencing, Genotype-phenotype correlation
Journal
HUMAN PATHOLOGY
Volume 47, Issue 1, Pages 144-149
Publisher
Elsevier BV
Online
2015-09-26
DOI
10.1016/j.humpath.2015.09.004

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