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

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

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 deleti...

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Bibliografiske detaljer
Main Authors: Alex R. Paciorkowski, Kim M. Keppler‐Noreuil, Luther K. Robinson, Christopher T. Sullivan, Samin A. Sajan, Susan L. Christian, Polina Bukshpun, Stacy Gabriel, Joseph G. Gleeson, Elliott H. Sherr, William B. Dobyns
Format: Artigo
Sprog:engelsk
Udgivet: 2013
Online adgang:https://doi.org/10.1002/ajmg.a.35969
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https://doi.org/10.1002/ajmg.a.35969

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