Investigating genotype‐to‐phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering

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 underta...

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Veröffentlicht in:	Clinical genetics 2023-10, Vol.104 (4), p.466-471
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	CHARGE syndrome CHD7 clustering Genotype & phenotype Genotypes genotype‐to‐phenotype correlation Hereditary diseases non‐sense mediated RNA decay Phenotypes Phenotyping Variation
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