Article
Inappropriate p53 activation during development induces features of CHARGE syndrome.
Nature - 9 Oct 2014
Van Nostrand Jeanine L, Brady Colleen A, Jung Heiyoun, Fuentes Daniel R, Kozak Margaret M, Johnson Thomas M, Lin Chieh-Yu, Lin Chien-Jung, Swiderski Donald L, Vogel Hannes, Bernstein Jonathan A, Attié-Bitach Tania, Chang Ching-Pin, Wysocka Joanna, Martin Donna M, Attardi Laura D
Abstract excerpt
CHARGE syndrome is a multiple anomaly disorder in which patients present with a variety of phenotypes, including ocular coloboma, heart defects, choanal atresia, retarded growth and development, genitourinary hypoplasia and ear abnormalities. Despite 70-90% of CHARGE syndrome cases resulting from mutations in the gene CHD7, which encodes an ATP-dependent chromatin remodeller, the pathways underlying the diverse...
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