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Article

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

Genes - 31 Mar 2020

Palumbo Pietro, Palumbo Orazio, Leone Maria Pia, di Muro Ester, Castellana Stefano, Bisceglia Luigi, Mazza Tommaso, Carella Massimo, Castori Marco

Abstract excerpt

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 technologies. Such an approach has also unexpectedly revealed a complex molecular basis in an increasing number of patients,...

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PMID: 32244554
DOI: 10.3390/genes11040379
PMCID: PMC7230222

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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