De novo truncating variant in NSD2gene leading to atypical Wolf-Hirschhorn syndrome phenotype

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome caused by partial 4p deletion highly variable in size in individual patients. The core WHS phenotype is defined by the association of growth delay, ...

Source: BMC Medical Genetics - August 5, 2019 Category: Genetics & Stem Cells Authors: Yanrui Jiang, Huizhen Sun, Qingmin Lin, Zengge Wang, Guanghai Wang, Jian Wang, Fan Jiang and Ruen Yao Tags: Case report Source Type: research