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...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , |
|---|---|
| Format: | Artigo |
| Sprache: | Englisch |
| Veröffentlicht: |
2013
|
| Online-Zugang: | https://doi.org/10.1002/ajmg.a.35969 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
Schreiben Sie den ersten Kommentar!