Article
De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions.
American journal of human genetics - 5 May 2016
Fregeau Brieana, Kim Bum Jun, Hernández-García Andrés, Jordan Valerie K, Cho Megan T, Schnur Rhonda E, Monaghan Kristin G, Juusola Jane, Rosenfeld Jill A, Bhoj Elizabeth, Zackai Elaine H, Sacharow Stephanie, Barañano Kristin, Bosch Daniëlle G M, de Vries Bert B A, Lindstrom Kristin, Schroeder Audrey, James Philip, Kulch Peggy, Lalani Seema R, van Haelst Mieke M, van Gassen Koen L I, van Binsbergen Ellen, Barkovich A James, Scott Daryl A, Sherr Elliott H
Abstract excerpt
Deletions of chromosome 1p36 affect approximately 1 in 5,000 newborns and are associated with developmental delay, intellectual disability, and defects involving the brain, eye, ear, heart, and kidney. Arginine-glutamic acid dipeptide repeats (RERE) is located in the proximal 1p36 critical region. RERE is a widely-expressed nuclear receptor coregulator that positively regulates retinoic acid signaling. Animal...
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