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Article

Further phenotype description, genotype characterization in patients with de novo interstitial deletion on 2p23.2-24.1.

American journal of medical genetics. Part A - 1 Jul 2014

Bloch Mercedes, Leonard Anissa, Diplas Andreas A, Pepermans Xavier, Emanuel Beverly S, Santa Rocca Maria, Revencu Nicole, Sznajer Yves

Abstract excerpt

Interstitial deletions of the distal part of chromosome 2p seem to be rarely identified or reported: to date, only nine distinct patients have been published. The last three patients were diagnosed with the use of more recent molecular karyotyping technology (SNP array). We report on the natural...

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PMID: 24700699
DOI: 10.1002/ajmg.a.36516

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OTOF

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24700699-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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