De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
Genome Medicine2013Vol. 5(2), pp. 11–11
Citations Over TimeTop 10% of 2013 papers
Matthew N. Bainbridge, Hao Hu, Donna M. Muzny, Luciana Musante, James R. Lupski, Brett H. Graham, Wei Chen, Karen W. Gripp, Kim Jenny, Thomas F. Wienker, Yaping Yang, V. Reid Sutton, Richard A. Gibbs, Hans‐Hilger Ropers
Abstract
We have identified truncating mutations in ASXL3 as the likely cause of a novel syndrome with phenotypic overlap with Bohring-Opitz syndrome.
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