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METAP1 Mutation Is a Novel Candidate for Autosomal Recessive Intellectual Disability
Intellectual disability (ID) is a genetic and clinically heterogenous common disease and underlying molecular pathogenesis can frequently not be identified by whole- exome/genome testing. Here, we report 4 siblings born to a consanguineous union who presented with intellectual disability and discuss...
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| Vydáno v: | J Hum Genet |
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| Hlavní autoři: | , , , , , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2020
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7785574/ https://ncbi.nlm.nih.gov/pubmed/32764695 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-020-0820-0 |
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