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...
-д хадгалсан:
| Үндсэн зохиолчид: | , , , , , , , , , , |
|---|---|
| Формат: | Artigo |
| Хэл сонгох: | англи |
| Хэвлэсэн: |
2013
|
| Онлайн хандалт: | https://doi.org/10.1002/ajmg.a.35969 |
| Шошгууд: |
Шошго нэмэх
Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!
|
Хамгийн түрүүнд сэтгэгдэл үлдээх!