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...
Saved in:
Main Authors: | , , , , , , , , , , |
---|---|
格式: | Artigo |
語言: | 英语 |
出版: |
2013
|
在線閱讀: | https://doi.org/10.1002/ajmg.a.35969 |
標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|
成為第一個發表評論!