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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Αγγλικά |
| Έκδοση: |
2013
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| Διαθέσιμο Online: | https://doi.org/10.1002/ajmg.a.35969 |
| Ετικέτες: |
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