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...

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Detalles Bibliográficos
Autores principales: Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, di Muro, Ester, Castellana, Stefano, Bisceglia, Luigi, Mazza, Tommaso, Carella, Massimo, Castori, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230222/
https://www.ncbi.nlm.nih.gov/pubmed/32244554
http://dx.doi.org/10.3390/genes11040379

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7230222/
https://www.ncbi.nlm.nih.gov/pubmed/32244554
http://dx.doi.org/10.3390/genes11040379

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