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Article

Terminal deletion of chromosome 5p in a patient with phenotypical features of Lujan-Fryns syndrome.

American journal of medical genetics. Part A - 15 Jun 2003

Stathopulu E, Ogilvie C Mackie, Flinter F A

Abstract excerpt

We report a young man with phenotypical features suggestive of Lujan-Fryns syndrome and behaviour of an autistic spectrum disorder, who has a subtle terminal deletion of the short arm of chromosome 5. Individuals reported previously with a similar chromosomal abnormality have had developmental de...

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Identifiers

PMID: 12784307
DOI: 10.1002/ajmg.a.10268

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12784307-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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