TY  - GEN
AU  - Duarte,Ana Filipa
AU  - Mota,Alberto
AU  - Baudrier,Teresa
AU  - Morais,Paulo
AU  - Santos,António
AU  - Cerqueira,Rita
AU  - Tavares,Purificação
AU  - Azevedo,Filomena
TI  - Piebaldism and neurofibromatosis type 1: family report
SN  - 1087-2108
PY  - 2010///0423
KW  - Adult
KW  - Amino Acid Substitution
KW  - Child, Preschool
KW  - Exons
KW  - genetics
KW  - Genes, Neurofibromatosis 1
KW  - Genetic Heterogeneity
KW  - Humans
KW  - Learning Disabilities
KW  - Male
KW  - Mutation, Missense
KW  - Neurofibromatosis 1
KW  - diagnosis
KW  - Piebaldism
KW  - Point Mutation
KW  - Proto-Oncogene Mas
KW  - Proto-Oncogene Proteins c-kit
N1  - Publication Type: Case Reports; Journal Article
ER  -