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Article

Presenting phenotype in 100 children with the 22q11 deletion syndrome.

European journal of pediatrics - 1 Mar 2005

Oskarsdóttir Sólveig, Persson Christina, Eriksson Bengt O, Fasth Anders

Abstract excerpt

UNLABELLED: The aim of this study was to investigate and describe the presenting phenotype of children with the 22q11 deletion syndrome and to describe common clinical features that could serve as guidelines in the clinical diagnostic process preceding genetic testing. A hospital-based study of 1...

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Identifiers

PMID: 15565286
DOI: 10.1007/s00431-004-1577-8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15565286-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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