Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome

Sotos syndrome is a rare genetic disorder caused by haploinsufficiency of the <i>NSD1</i> (nuclear receptor binding SET domain containing protein 1) gene. No clinical diagnostic consensus criteria are published yet, and molecular analysis reduces the clinical diagnostic uncertainty. We s...

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Bibliographic Details
Main Authors: Barbara Testa, Giuseppina Conteduca, Marina Grasso, Massimiliano Cecconi, Francesca Lantieri, Chiara Baldo, Alessia Arado, Laura Andraghetti, Michela Malacarne, Donatella Milani, Domenico Coviello, Sotos Collaborative Group
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Genes
Subjects:
Sotos syndrome
<i>NSD1</i>
variants of uncertain significance
NGS
Online Access:https://www.mdpi.com/2073-4425/14/2/295

Internet

https://www.mdpi.com/2073-4425/14/2/295

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