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Article

Blended Phenotypes in Individuals With Rare Diseases: A Brazilian Case Series.

American journal of medical genetics. Part A - 1 Dec 2025

Piai Caroline Brandão, Salti Gabriela Yumi Goto, Allegro Marcella Cardoso, Betty Priscila Barbosa, de Souza Valente Fernanda, Pasa Isabela Dorneles, de Oliveira Stephan Bruno, Linnenkamp Bianca Domit Werner, Honjo Rachel Sayuri, Bertola Debora Romeo, Sakamoto Masamune, Inoue Yuta, Saida Ken, Tsuchida Naomi, Miyake Noriko, Matsumoto Naomichi, Kim Chong Ae

Abstract excerpt

The growing use of whole exome sequencing and whole genome sequencing in clinical practice has revealed the existence of a group of individuals that do not fit into only one molecular diagnosis. These subjects are those in whom pathogenic or likely pathogenic variants occur in more than one gene, creating "blended phenotypes" There are also genes that warrant reporting, even if they are not associated with the...

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PMID: 40762225
DOI: 10.1002/ajmg.a.64209

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