SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.

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… (More)
DOI: 10.1111/j.1399-0004.2009.01149.x

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