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

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...

Full description

Bibliographic Details
Main Authors: Kateryna Kalyta, Weronika Stelmaszczyk, Dominika Szczęśniak, Lidia Kotuła, Paula Dobosz, Magdalena Mroczek
Format: Article
Language:English
Published: MDPI AG 2023-07-01
Series:Genes
Subjects:
symptomatic carrier
heterozygous effect
symptomatic heterozygotes
Online Access:https://www.mdpi.com/2073-4425/14/8/1562

Similar Items

Similar Items