High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders

Neurodevelopmental disorders (NDDs) affect 2–5% of the population and approximately 50% of cases are due to genetic factors. Since <i>de novo</i> pathogenic variants account for the majority of cases, a gene panel including 460 dominant and X-linked genes was designed and applied to 398...

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Bibliographic Details
Main Authors: Nino Spataro, Juan Pablo Trujillo-Quintero, Carmen Manso, Elisabeth Gabau, Nuria Capdevila, Victor Martinez-Glez, Antoni Berenguer-Llergo, Sara Reyes, Anna Brunet, Neus Baena, Miriam Guitart, Anna Ruiz
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Genes
Subjects:
neurodevelopmental disorders
intellectual disability
autism
gene panel
next generation sequencing
re-analysis
Online Access:https://www.mdpi.com/2073-4425/14/3/708

Internet

https://www.mdpi.com/2073-4425/14/3/708

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