Genotype-phenotype correlation in type 1 neurofibromatosis: pMet992del mutation and milder disease.
作者信息
Batalla Ana, Iglesias-Puzas Álvaro, Freire-Bruno José, Herrero-Hermida Javier, Flórez Ángeles
机构信息
Departments of Dermatology and Pediatrics, Complejo Hospitalario Universitario de Pontevedra, Pontevedra, Spain.
出版信息
Pediatr Dermatol. 2018 Sep;35(5):e268-e271. doi: 10.1111/pde.13578. Epub 2018 Jul 1.
PMID:29968256
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.
摘要
Zotero 插件