Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations

Clin Dysmorphol. 2010 Jul;19(3):157-160. doi: 10.1097/MCD.0b013e3283375886.

Authors

Ryszard Slezak¹, Klaudiusz Luczak, Vera Kalscheuer, Thomas E Neumann, Maria M Sasiadek

Affiliation

¹ Departments of Genetics Maxilla-Facial Surgery, Wroclaw Medical University, Wroclaw, Poland Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin Department of Human Genetics, University Hospital Münster, Münster, Germany.

PMID: 20305546
DOI: 10.1097/MCD.0b013e3283375886

No abstract available

Publication types

Case Reports

MeSH terms

Adult
Child
Child, Preschool
Female
Giant Cells / pathology*
Humans
Infant
Infant, Newborn
Male
Mutation / genetics*
Noonan Syndrome / genetics*
Pregnancy
SOS1 Protein / genetics*
Young Adult

Substances

SOS1 Protein