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Article

Mental retardation and cardiovascular malformations in <i>NF1 </i>microdeleted patients point to candidate genes in 17q11.2

1 Jan 2004

Abstract excerpt

N NF1 microdeletion syndrome is determined by haplo- insufficiency of the NF1 gene and its flanking regions; NF1 microdeleted patients show a more severe phenotype than observed in classical NF1 patients.

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Identifiers

PMID: 14729829
DOI: 10.1136/jmg.2003.014761

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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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Mental retardation and cardiovascular malformations in <i>NF1 </i>microdeleted patients point to candidate genes in 17q11.2PMID 14729829Read ↗

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