Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome

Sotos syndrome is an autosomal dominant condition characterized by overgrowth with advanced bone age, macrodolicocephaly, motor developmental delays and learning difficulties, and characteristic facial features caused by heterozygous pathogenetic variants in the <i>NSD1</i> gene located...

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Bibliographic Details
Main Authors: Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio
Format: Article
Language:English
Published: MDPI AG 2024-03-01
Series:Diagnostics
Subjects:
sotos syndrome
congenital heart defect
cardiomyopathy
<i>NSD1</i> gene
Online Access:https://www.mdpi.com/2075-4418/14/6/594

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