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Genotype‐phenotype correlation in type 1 neurofibromatosis: pMet992del mutation and milder disease |
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| Authors: | Ana Batalla MD PhD Álvaro Iglesias‐Puzas MD José Freire‐Bruno MD Javier Herrero‐Hermida MD Ángeles Flórez MD PhD |
| Affiliation: | Departments of Dermatology and Pediatrics, Complejo Hospitalario Universitario de Pontevedra, Pontevedra, Spain |
| Abstract: | 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. |
| Keywords: | genotype‐phenotype correlations neurofibroma neurofibromatosis 1 |