Deletion 16p13.11 uncovers NDE1 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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2013
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689850/
https://www.ncbi.nlm.nih.gov/pubmed/23704059
http://dx.doi.org/10.1002/ajmg.a.35969

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3689850/
https://www.ncbi.nlm.nih.gov/pubmed/23704059
http://dx.doi.org/10.1002/ajmg.a.35969

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