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- Title
SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.
- Authors
Hanna, N; Parfait, B; Talaat, I M; Vidaud, M; Elsedfy, H H
- 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.
- Publication
Clinical genetics, 2009, Vol 75, Issue 6, p568
- ISSN
1399-0004
- Publication type
Journal Article
- DOI
10.1111/j.1399-0004.2009.01149.x