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Genotype‐phenotype correlation in type 1 neurofibromatosis: pM et992del mutation and milder disease
Author(s) -
Batalla Ana,
IglesiasPuzas Álvaro,
FreireBruno José,
HerreroHermida Javier,
Flórez Ángeles
Publication year - 2018
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13578
Subject(s) - neurofibromatosis , phenotype , genotype , mutation , medicine , disease , genotype phenotype distinction , genetics , cancer research , microbiology and biotechnology , biology , gene , pathology
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.