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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...
Autores principales: | Palumbo, Pietro, Palumbo, Orazio, Leone, Maria Pia, di Muro, Ester, Castellana, Stefano, Bisceglia, Luigi, Mazza, Tommaso, Carella, Massimo, Castori, Marco |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
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 |
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