SOS1: A new player in the Noonan-like/multiple giant cell lesion syndrome
Hanna, Nadine; 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. © 2009 John Wiley & Sons A/S.
Other data
Title | SOS1: A new player in the Noonan-like/multiple giant cell lesion syndrome | Authors | Hanna, Nadine; Parfait, B.; Talaat, I. M.; Vidaud, M.; Elsedfy, H.H | Keywords | Cherubism;Noonan syndrome;multiple giant cell lesion syndrome;Noonan-like;SOS1 | Issue Date | 11-Jun-2009 | Journal | Clinical Genetics | Volume | 75 | Issue | 6 | Start page | 568 | End page | 571 | ISSN | 00099163 | DOI | 10.1111/j.1399-0004.2009.01149.x | PubMed ID | 19438935 | Scopus ID | 2-s2.0-66549085060 |
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