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Article

Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome.

European journal of human genetics : EJHG - 1 Sept 2024

Starosta Rodrigo Tzovenos, Jensen Nathaniel, Couteranis Sophia, Slaugh Rachel, Easterlin Dawn, Tate Victoria, Sams Eleanor I, Valle Kostandin, Akinwe Titilope, Hou Ying-Chen Claire, Turner Tychele N, Cole F Sessions, Milbrandt Jeffrey, Dickson Patricia

Abstract excerpt

Using a new analytic method ("unique non-overlapping region" (UNOR) analysis), we characterized the genotypes and phenotypes of a large cohort of individuals diagnosed with chromosome 9p deletion syndrome (9PMS) and defined critical genomic regions. We extracted phenotypic information from 48 individuals with 9PMS from medical records and used a guided interview with caregivers to clarify ambiguities. Using...

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Identifiers

PMID: 38972963
DOI: 10.1038/s41431-024-01667-y
PMCID: PMC11369271

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FREM1

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