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

• Egile Nagusiak: Yanrui Jiang (Egilea), Huizhen Sun (Egilea), Qingmin Lin (Egilea), Zengge Wang (Egilea), Guanghai Wang (Egilea), Jian Wang (Egilea), Fan Jiang (Egilea), Ruen Yao (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2019-08-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Abstract Background 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, typical facial characteristics, intellectual disability and seizures. T...