Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review

Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review

Chromosome 9p deletion syndrome is a rare autosomal dominant disorder presenting with a broad spectrum of clinical features, including congenital heart defects (CHDs). To date, studies focused on a deep characterization of cardiac phenotype and function associated with this condition are lacking. We...

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Bibliographic Details
Main Authors: Flaminia Pugnaloni, Roberta Onesimo, Rita Blandino, Carolina Putotto, Paolo Versacci, Angelica Bibiana Delogu, Chiara Leoni, Valentina Trevisan, Ileana Croci, Federica Calì, Maria Cristina Digilio, Giuseppe Zampino, Bruno Marino, Giulio Calcagni
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Genes
Subjects:
9p deletion syndrome
clinical genetics
congenital heart defects
genotype–phenotype correlation
Online Access:https://www.mdpi.com/2073-4425/14/1/146

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