Cohen syndrome due to a novel VPS13B mutation in a Chinese family

Author:

Cai Shu-ying,Li Pei,Hu Shu-xiang,Cai Hui-qiang,Li Wen-jie,Peng Gui-lan

Publisher

Elsevier BV

Subject

General Earth and Planetary Sciences,General Environmental Science

Reference18 articles.

1. Cohen syndrome: review of the literature;Rodrigues;Cureus,2018

2. A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular, and limb anomalies;Cohen;J Pediatr,1973

3. Rearrangement of VPS13B, a causative gene of Cohen syndrome, in a case of RUNX1-RUNX1T1 leukemia with t(8;12;21);Abe;Int J Hematol,2018

4. Delineation of Cohen syndrome following a large-scale genotype-phenotype screen;Kolehmainen;Am J Hum Genet,2004

5. Idiopathic pulmonary arterial hypertension in a young patient with the Cohen syndrome;Cokkinos;Hellenic J Cardiol,2013

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