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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...
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Izdano u: | J Med Genet |
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Glavni autori: | , , , , , , , , , , , , , , , , , , |
Format: | Artigo |
Jezik: | Inglês |
Izdano: |
2016
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Teme: | |
Online pristup: | 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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