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...

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Detalles Bibliográficos
Autores principales: Crimi, Marco, Tarawneh, Adnan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2022
Materias:
Case Report
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

Internet

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

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