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Article

Genotype-phenotype correlation in type 1 neurofibromatosis: pMet992del mutation and milder disease.

Pediatric dermatology - 1 Sept 2018

Batalla Ana, Iglesias-Puzas Álvaro, Freire-Bruno José, Herrero-Hermida Javier, Flórez Ángeles

Abstract excerpt

A few genotype-phenotype correlations have been described in type 1 neurofibromatosis. One deletion, p.Met992del, seems to be responsible for a mild form of the condition, in which there is absence of externally visible neurofibromas. We report a mother and a son with this mutation.

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PMID: 29968256
DOI: 10.1111/pde.13578

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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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