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Article

Childhood overgrowth in patients with common NF1 microdeletions

27 Apr 2005

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 15856072
DOI: 10.1038/sj.ejhg.5201419

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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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Childhood overgrowth in patients with common NF1 microdeletionsPMID 15856072Read ↗

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Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.Semantic proximity Read ↗

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Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.Semantic proximity Read ↗

Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencingSemantic proximity Read ↗

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Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delaySemantic proximity Read ↗

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