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...
Tallennettuna:
| Päätekijät: | , , , , , , , , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | englanti |
| Julkaistu: |
2013
|
| Linkit: | https://doi.org/10.1002/ajmg.a.35969 |
| Tagit: |
Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!
|
Lisää ensimmäinen kommentti!