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

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 fea...

Source: Orphanet Journal of Rare Diseases - February 15, 2019 Category: Internal Medicine Authors: Hui Tang, Jing Guo, Siyuan Linpeng and Lingqian Wu Tags: Research Source Type: research