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2022: a pivotal year for diagnosis and treatment of rare genetic diseases
The start of 2022 is an inflection point in the development of diagnostics and treatments for rare genetic diseases in prenatal, pediatric, and adult individuals–the theme of this special issue. Here I briefly review recent developments in two pivotal aspects of genetic disease diagnostics and treat...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cold Spring Harbor Laboratory Press
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958907/ https://www.ncbi.nlm.nih.gov/pubmed/35217563 http://dx.doi.org/10.1101/mcs.a006204 |