Genotype-phenotype correlation in type 1 neurofibromatosis: pMet992del mutation and milder disease.
Ana BatallaÁlvaro Iglesias-PuzasJosé Freire-BrunoJavier Herrero-HermidaÁngeles FlórezPublished in: Pediatric dermatology (2018)
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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