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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia
BACKGROUND: The causes of intellectual disability (ID) are diverse and de novo mutations are increasingly recognised to account for a significant proportion of ID. METHODS AND RESULTS: In this study, we performed whole exome sequencing on a large cohort of patients with ID or neurodevelopmental dela...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | J Med Genet |
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| Κύριοι συγγραφείς: | , , , , , , , , , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2016
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5222737/ https://ncbi.nlm.nih.gov/pubmed/27389779 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2016-103943 |
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