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A de novo microdeletion in a patient with inner ear abnormalities suggests that the 10q26.13 region contains the responsible gene
Microdeletions in the 10q26.1 region are related to intellectual disability, growth delay, microcephaly, distinctive craniofacial features, cardiac defects, genital abnormalities and inner ear abnormalities. The genes responsible for inner ear abnormalities have been narrowed to fibroblast growth fa...
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| Vydáno v: | Hum Genome Var |
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| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Nature Publishing Group
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4871931/ https://ncbi.nlm.nih.gov/pubmed/27274859 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.8 |
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