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Article

Do NF1 gene deletions result in a characteristic phenotype?

American journal of medical genetics - 28 Nov 1997

Tonsgard J H, Yelavarthi K K, Cushner S, Short M P, Lindgren V

Abstract excerpt

Neurofibromatosis-1 (NF1) is an autosomal dominant disorder with marked variability of expression. Analysis of the NF1 gene (NF1) has detected a variety of mutations without any clear correlation with phenotype. However, deletions which remove all of NF1 have been reported in a small number of patients who have minor facial abnormalities, mental retardation, learning disabilities, and early or excessive burden of...

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

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Identifiers

PMID: 9375928
DOI: 10.1002/(sici)1096-8628(19971128)73:1<80::aid-ajmg16>3.0.co;2-n

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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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