在WSB2中编码E3泛素合酶基质受体的衰退变体是神经发育综合征的基础

Shiyu Luo1,2,3, Valérie Gailus-Durner4, Bobbi McGivern5

  • 1Division of Neonatology, Department of Pediatrics, University of Miami Miller School of Medicine and Holtz Children's Hospital, Jackson Health System, Miami, FL, 33136, USA.

概括

在WSB2中功能丧失的变体会在人类中引起一种新的神经发育障碍. 在WSB2的同卵性突变导致发育延迟,大脑异常和神经问题,反映了Wsb2突变小鼠的发现.

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