1.
Pediatr Dermatol
; 35(5): e268-e271, 2018 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29968256
RESUMO
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.