SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.
Clin Genet
; 75(6): 568-71, 2009 Jun.
Article
em En
| MEDLINE
| ID: mdl-19438935
ABSTRACT
Noonan-like/multiple giant cell lesion syndrome is a rare condition with phenotypic overlap with Noonan syndrome (NS) and cherubism. PTPN11 gene mutations were described in several individuals with this phenotype, and it is recently considered as a variant phenotype of NS. Gain-of-function mutations in the SOS1 gene were recently described as the second major cause of NS. Here, we report for the first time the involvement of SOS1 gene in a family with the Noonan-like/multiple giant cell lesion phenotype.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Células Gigantes
/
Proteína SOS1
Tipo de estudo:
Etiology_studies
Limite:
Child
/
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2009
Tipo de documento:
Article
País de afiliação:
França