Search

Scholarly Works (1 results)

Article
Peer Reviewed

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

Sherr, Elliott;
Paciorkowski, AR;
Keppler-Noreuil, K;
Robinson, L;
Sullivan, C;
Sajan, S;
Christian, SL;
Bukshpun, P;
Gabriel, SB;
Gleeson, JG;
Sherr, EH

UC San Francisco Previously Published Works (2013)

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 disruptio