Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children

Abstract Background Cornelia de Lange syndrome (CdLS) and Rubinstein-Taybi syndrome (RSTS) are both rare congenital multiple malformation disorders caused by genes associated with transcription. They share a number of similar features clinically. In addition, it is difficult to make a molecular diag...

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Bibliographic Details

Published in:	Orphanet Journal of Rare Diseases
Main Authors:	Hui Tang, Jing Guo, Siyuan Linpeng, Lingqian Wu
Format:	Article
Language:	English
Published:	BMC 2019-02-01
Subjects:	Cornelia de Lange syndrome Rubinstein-Taybi syndrome NIPBL CREBBP Next generation sequencing
Online Access:	http://link.springer.com/article/10.1186/s13023-019-1022-8