Literature DB >> 29968256

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

Ana Batalla1, Álvaro Iglesias-Puzas1, José Freire-Bruno1, Javier Herrero-Hermida1, Ángeles Flórez1.   

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.
© 2018 Wiley Periodicals, Inc.

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Keywords:  genotype-phenotype correlations; neurofibroma; neurofibromatosis 1

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Year:  2018        PMID： 29968256     DOI： 10.1111/pde.13578

Source DB:  PubMed          Journal:  Pediatr Dermatol        ISSN： 0736-8046            Impact factor:   1.588


  1 in total

1.  A rare case of patient with neurofibromatosis type 1 in a genotype-phenotype correlation revealing a submicroscopic deletion on the long arm of chromosome 17.

Authors:  Vityala Yethindra; Tugolbai Tagaev; Elmira Mamytova; Elmira Mainazarova; Cholpon Dzhumakova; Asel Namazbekova
Journal:  Clin Case Rep       Date:  2021-03-15
  1 in total

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