טוען...
Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits
Microphthalmia, coloboma and cataract are part of a spectrum of developmental eye disorders in humans affecting ~12 per 100 000 live births. Currently, variants in over 100 genes are known to underlie these conditions. However, at least 40% of affected individuals remain without a clinical genetic d...
שמור ב:
| הוצא לאור ב: | Hum Mol Genet |
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| Main Authors: | , , , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
Oxford University Press
2020
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7645705/ https://ncbi.nlm.nih.gov/pubmed/32885237 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa198 |
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