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Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
The introduction of whole-exome sequencing into the Pediatric Genetics clinic has increased the identification of novel genes associated with neurodevelopmental disorders and congenital anomalies. This agnostic approach has shed light on multiple proteins and pathways not previously known to be asso...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Eur J Hum Genet |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group
2017
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5567153/ https://ncbi.nlm.nih.gov/pubmed/28513610 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2017.86 |
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