Article
Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.
Clinical genetics - 1 Oct 2023
Dana Jérémy, Dorval Guillaume, Martin Christine Saint, Belhous Kahina, Levy Raphael, Marlin Sandrine, De Bie Isabelle, Mautret-Godefroy Manon, Rausell Antonio, Rio Marlène, Boucher-Brischoux Elise, Attié-Bitach Tania, Boddaert Nathalie, Pingault Véronique
Abstract excerpt
CHARGE syndrome, due to CHD7 pathogenic variations, is an autosomal dominant disorder characterized by a large spectrum of severity. Despite the great number of variations reported, no clear genotype-to-phenotype correlation has been reported. Unsupervised machine learning and clustering was undertaken using a retrospective cohort of 42 patients, after deep radiologic and clinical phenotyping, to establish...
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