The Spectrum of the Heterozygous Effect in Biallelic Mendelian Diseases—The Symptomatic Heterozygote Issue

Heterozygous carriers of pathogenic/likely pathogenic variants in autosomal recessive disorders seem to be asymptomatic. However, in recent years, an increasing number of case reports have suggested that mild and unspecific symptoms can occur in some heterozygotes, as symptomatic heterozygotes have...

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Detalles Bibliográficos
Autores principales: Kalyta, Kateryna, Stelmaszczyk, Weronika, Szczęśniak, Dominika, Kotuła, Lidia, Dobosz, Paula, Mroczek, Magdalena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454578/
https://www.ncbi.nlm.nih.gov/pubmed/37628614
http://dx.doi.org/10.3390/genes14081562

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10454578/
https://www.ncbi.nlm.nih.gov/pubmed/37628614
http://dx.doi.org/10.3390/genes14081562

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