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Article

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients.

American journal of human genetics - 1 Mar 1994

Kayes L M, Burke W, Riccardi V M, Bennett R, Ehrlich P, Rubenstein A, Stephens K

Abstract excerpt

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by marked variation in clinical severity. To investigate the contribution to variability by genes either contiguous to or contained within the NF1 gene, we screened six NF1 patients with mild facial dysmorphology, mental retardation, and/or learning disabilities, for DNA rearrangement of the NF1 region. Five of the six patients had NF1...

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Identifiers

PMID: 8116612
PMCID: PMC1918114

Genes

OMG

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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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