Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures

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...

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Detalles Bibliográficos
Autores principales: Spedicati, Beatrice, Morgan, Anna, Pianigiani, Giulia, Musante, Luciana, Rubinato, Elisa, Santin, Aurora, Nardone, Giuseppe Giovanni, Faletra, Flavio, Girotto, Giorgia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690221/
https://www.ncbi.nlm.nih.gov/pubmed/36360260
http://dx.doi.org/10.3390/genes13112023

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9690221/
https://www.ncbi.nlm.nih.gov/pubmed/36360260
http://dx.doi.org/10.3390/genes13112023

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