Article
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.
Genes - 3 Nov 2022
Spedicati Beatrice, Morgan Anna, Pianigiani Giulia, Musante Luciana, Rubinato Elisa, Santin Aurora, Nardone Giuseppe Giovanni, Faletra Flavio, Girotto Giorgia
Abstract excerpt
Dual molecular diagnoses are defined as the presence of pathogenic variants at two distinct and independently segregating loci that cause two different Mendelian conditions. In this study, we report the identification of double genetic disorders in a series of patients with complex clinical features. In the last 24 months, 342 syndromic patients have been recruited and clinically characterised. Whole Exome...
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