Compound Phenotype Due to Recessive Variants in LARP7 and OTOG 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...

Full description

Saved in:

Bibliographic Details
Published in:	Genes (Basel)
Main Authors:	Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, di Muro, Ester, Castellana, Stefano, Bisceglia, Luigi, Mazza, Tommaso, Carella, Massimo, Castori, Marco
Format:	Artigo
Language:	Inglês
Published:	MDPI 2020
Subjects:	Article
Online Access:	https://ncbi.nlm.nih.gov/pmc/articles/PMC7230222/ https://ncbi.nlm.nih.gov/pubmed/32244554 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11040379
Tags:	Add Tag No Tags, Be the first to tag this record!

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

Similar Items