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Article

Clinical variability of type 1 neurofibromatosis: is there a neurofibromatosis-Noonan syndrome?

Journal of medical genetics - 1 Mar 1992

Stern H J, Saal H M, Lee J S, Fain P R, Goldgar D E, Rosenbaum K N, Barker D F

Abstract excerpt

Detailed clinical, ophthalmological, and molecular studies were performed on a multigeneration family in which there were many subjects with type 1 neurofibromatosis, a common autosomal dominant disorder. Affected family members displayed a wide range of clinical findings including, in two subjects, features seen in Noonan syndrome (triangular facies, downward slanting palpebral fissures, micrognathia, short...

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Identifiers

PMID: 1348094
DOI: 10.1136/jmg.29.3.184
PMCID: PMC1015894

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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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