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Article

Further characterization of microdeletion syndrome involving 2p15-p16.1.

American journal of medical genetics. Part A - 1 Oct 2010

Félix Têmis Maria, Petrin Aline Lourenço, Sanseverino Maria Teresa Vieira, Murray Jeffrey C

Abstract excerpt

We report on a patient presenting with cognitive delay, prenatal and postnatal growth deficiency, microcephaly, ptosis of eyelids, high and broad nasal root, and camptodactyly. Analysis of a dense whole genome single-nucleotide polymorphism (SNP) array showed a de novo 3.35 Mb deletion on 2p15-p1...

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Source

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Identifiers

PMID: 20799320
DOI: 10.1002/ajmg.a.33612
PMCID: PMC2946431

Genes

VRK2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20799320-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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