Article
De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features.
American journal of human genetics - 5 Jul 2018
Tokita Mari J, Chen Chun-An, Chitayat David, Macnamara Ellen, Rosenfeld Jill A, Hanchard Neil, Lewis Andrea M, Brown Chester W, Marom Ronit, Shao Yunru, Novacic Danica, Wolfe Lynne, Wahl Colleen, Tifft Cynthia J, Toro Camilo, Bernstein Jonathan A, Hale Caitlin L, Silver Julia, Hudgins Louanne, Ananth Amitha, Hanson-Kahn Andrea, Shuster Shirley, Magoulas Pilar L, Patel Vipulkumar N, Zhu Wenmiao, Chen Stella M, Jiang Yanjun, Liu Pengfei, Eng Christine M, Batkovskyte Dominyka, di Ronza Alberto, Sardiello Marco, Lee Brendan H, Schaaf Christian P, Yang Yaping, Wang Xia
Abstract excerpt
TRAF7 is a multi-functional protein involved in diverse signaling pathways and cellular processes. The phenotypic consequence of germline TRAF7 variants remains unclear. Here we report missense variants in TRAF7 in seven unrelated individuals referred for clinical exome sequencing. The seven individuals share substantial phenotypic overlap, with developmental delay, congenital heart defects, limb and digital...
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