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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| Главные авторы: | , , , , , , , , , , |
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| Формат: | Artigo |
| Язык: | английский |
| Опубликовано: |
2013
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| Online-ссылка: | https://doi.org/10.1002/ajmg.a.35969 |
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