Article
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
Human molecular genetics - 1 Aug 2015
Van Laarhoven Peter M, Neitzel Leif R, Quintana Anita M, Geiger Elizabeth A, Zackai Elaine H, Clouthier David E, Artinger Kristin B, Ming Jeffrey E, Shaikh Tamim H
Abstract excerpt
Kabuki syndrome (KS) is a rare multiple congenital anomaly syndrome characterized by distinctive facial features, global developmental delay, intellectual disability and cardiovascular and musculoskeletal abnormalities. While mutations in KMT2D have been identified in a majority of KS patients, a...
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