Učitavanje...
PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly
Primary microcephaly (PM) is a highly heterogeneous neurodevelopmental disorder with many contributing risk genes and loci identified to date. We report a consanguineous family with PM, intellectual disability and short stature. Using whole exome sequencing, we identified a homozygous frameshift var...
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| Izdano u: | Clin Genet |
|---|---|
| Glavni autori: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2020
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8061709/ https://ncbi.nlm.nih.gov/pubmed/32286682 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.13756 |
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