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

出版年份 2016 全文链接

标题

作者

关键词

CREB binding protein, Novel mutation, Rubinstein-Taybi syndrome, Targeted exome sequencing, Genotype-phenotype correlation

出版物

HUMAN PATHOLOGY

Volume 47, Issue 1, Pages 144-149

出版商

Elsevier BV

发表日期

2015-09-26

DOI

10.1016/j.humpath.2015.09.004

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