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Article

[Phenotypic variability of deletion 22q11.2. An analysis of 16 observations with special emphasis on the neurological manifestations].

Revista de neurologia - 1 Jan 2000

Eirís-Puñal J, Iglesias-Meleiro J M, Blanco-Barca M O, Fuster-Siebert M, Barros-Angueira F, Ansede A, Castro-Gago M

Abstract excerpt

INTRODUCTION: The microdeletion 22q11.2 affects 1/4000 live births and constitutes the most frequent interstitial chromosomal alteration in humans. It is involved in a heterogeneous series of phenotypic expressions. AIMS: To determine the most important clinical characteristics in a series of patients with this genetic molecular disorder. PATIENTS AND METHODS: We conducted a retrospective study of 16 patients who...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 14582013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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