Article
Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
American journal of medical genetics. Part A - 1 Jul 2013
Paciorkowski Alex R, Keppler-Noreuil Kim, Robinson Luther, Sullivan Christopher, Sajan Samin, Christian Susan L, Bukshpun Polina, Gabriel Stacy B, Gleeson Joseph G, Sherr Elliott H, Dobyns William B
Abstract excerpt
Deletions of 16p13.11 have been associated with a variety of phenotypes, and have also been found in normal individuals. We report on two unrelated patients with severe microcephaly, agenesis of the corpus callosum, scalp rugae, and a fetal brain disruption (FBD)-like phenotype with inherited deletions of 16p13.11. The first patient was subsequently found on whole exome sequencing to have a nonsense mutation...
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