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Article

[A girl with Angelman syndrome].

Nederlands tijdschrift voor geneeskunde - 1 Jan 2014

Cobben Jan Maarten, van Hal Arjen, van den Puttelaar-van Hal Nora, van Dijk Fleur S

Abstract excerpt

BACKGROUND: Angelman syndrome is a genetic syndrome with a prevalence of 1 in 20,000. The combination of behaviour and phenotype makes this syndrome one of the easiest genetic syndromes to recognise. CASE DESCRIPTION: Here we describe the case of Femke, a 3-year-old girl with Angelman syndrome. The phenotype is described from a medical perspective as well from the perspective of the parents. CONCLUSION: Any...

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PMID: 25406821

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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