Compound Phenotype Due to Recessive Variants in <i>LARP7</i> and <i>OTOG</i> Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing

Compound Phenotype Due to Recessive Variants in <i>LARP7</i> and <i>OTOG</i> Genes Disclosed by an Integrated Approach of SNP-Array and Whole Exome Sequencing

Neurodevelopmental disorders are a challenge in medical genetics due to genetic heterogeneity and complex genotype-phenotype correlations. For this reason, the resolution of single cases not belonging to well-defined syndromes often requires an integrated approach of multiple whole-genome technologi...

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Bibliographic Details
Main Authors: Pietro Palumbo, Orazio Palumbo, Maria Pia Leone, Ester di Muro, Stefano Castellana, Luigi Bisceglia, Tommaso Mazza, Massimo Carella, Marco Castori
Format: Article
Language:English
Published: MDPI AG 2020-03-01
Series:Genes
Subjects:
Alazami syndrome
compound phenotype
<i>OTOG</i>
regions of homozygosity
whole-exome sequencing
Online Access:https://www.mdpi.com/2073-4425/11/4/379

Internet

https://www.mdpi.com/2073-4425/11/4/379

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