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Clin Genet. 2009 Jun;75(6):568-71. doi: 10.1111/j.1399-0004.2009.01149.x. Epub 2009 May 5.

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

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  • 1INSERM U745, Facult√© des Sciences Pharmaceutiques et Biologiques, Universit√© Paris Descartes, Paris Cedex 06, France. nadine.hanna@gmail.com

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.

PMID:
19438935
[PubMed - indexed for MEDLINE]
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