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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PAGEPress Publications,
2022-03-01T00:00:00Z.
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