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A novel cardiomyopathy phenotype linked to a CHD7 missense variant

Abstract Loss of function in the chromatin remodeler CHD7 causes CHARGE syndrome, characterized by variable penetrance and diverse abnormalities. However, establishing genotype-phenotype correlations has been challenging, as most CHD7 inactivating mutations are null alleles. Through CHD7 missense va...

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Principais autores: In Young Park, Chih-Wei Hsu, Karim Bouazoune, Christina E. Espindola, Madeline Hannah McLaughlin Armond, Cristian Coarfa, Sandra L. Grimm, James F. Martin, Donna M. Martin, Cheryl Lyn Walker
פורמט: Artigo
שפה:Inglês
יצא לאור: Nature Portfolio 2025-06-01
סדרה:Scientific Reports
נושאים:
CHARGE syndrome
CHD7
T730 phosphorylation
Cardiomyopathy
GSK3
גישה מקוונת:https://doi.org/10.1038/s41598-025-00606-1
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