Article

New Deletion of Multiple Genes in the Pathogenic Subtelomeric Region is Related to the Phenotypic Heterogeneity of Patients with Polymalformation Syndrome

2024-10-08

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<title>Abstract</title> <p><bold>Introduction:</bold> Genomic testing has advanced significantly, enabling the identification of changes ranging from specific locus modifications to genomic structural alterations. This has improved the diagnosis of diseases and the understanding of little-known genetic disorders. <bold>Objective:</bold> To describe the case of an adolescent with no consanguineous parents and no f...

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Literature Corpus work: 77abe4fd-691b-5d8a-95e1-b5e983c91978
DOI: 10.21203/rs.3.rs-4587362/v1

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New Deletion of Multiple Genes in the Pathogenic Subtelomeric Region is Related to the Phenotypic Heterogeneity of Patients with Polymalformation SyndromeDOI 10.21203/rs.3.rs-4587362/v1Read

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