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Article

The phenotype of 15 cases with rare 8q24.13-q24.3 deletions-A new syndrome or still an enigma?

American journal of medical genetics. Part A - 1 May 2021

Maya Idit, Kahana Sarit, Agmon-Fishman Ifaat, Klein Cochava, Matar Reut, Berger Racheli, Josefsberg Sagi Ben Yehoshua, Shohat Mordechai, Marom Daphna, Basel-Salmon Lina, Sagi-Dain Lena

Abstract excerpt

Diagnosis of rare copy number variants (CNVs) with scarce literature evidence poses a major challenge for interpretation of the clinical significance of chromosomal microarray analysis (CMA) results, especially in the prenatal setting. Bioinformatic tools can be used to assist in this issue; however, this prediction can be imprecise. Our objective was to describe the phenotype of the rare copy number losses...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33619900
DOI: 10.1002/ajmg.a.62131

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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