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The genetic counseling in a patient affected by congenital polyneuropathy after a “diagnostic odyssey” recently solved with WES approach
Counseling after WES/WGS presents challenges for healthcare providers as the availability of consumer-driven is rapidly increasing. The present report uncovers an extremely rare homozygous nonsense mutation c. 1639C>T (p.Gln547Ter) in PRX gene of a patient with heterogeneous manifestation of Char...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
PAGEPress Publications, Pavia, Italy
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8992674/ https://www.ncbi.nlm.nih.gov/pubmed/35293193 http://dx.doi.org/10.4081/ejtm.2022.10361 |