| SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome. | |
| | |
MedLine Citation:
|
PMID: 19438935 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
N Hanna; B Parfait; I M Talaat; M Vidaud; H H Elsedfy |
Related Documents
:
|
10193515 - Identification of a novel pten mutation (l139x) in a patient with cowden disease and sj... 20127975 - Review and update of mutations causing waardenburg syndrome. 16801345 - A molecular and clinical study of larsen syndrome caused by mutations in flnb. 15742365 - Mutation analysis of the nsd1 gene in a group of 59 patients with congenital overgrowth. 16169365 - Angiographic evaluation of myocardial perfusion in patients with syndrome x. 18400035 - Cytogenetic and molecular characterization of a three-generation family with chromosome... |
Publication Detail:
|
Type: Case Reports; Journal Article Date: 2009-05-05 |
Journal Detail:
|
Title: Clinical genetics Volume: 75 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2009 Jun |
Date Detail:
|
Created Date: 2009-06-10 Completed Date: 2009-10-05 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
|
Languages: eng Pagination: 568-71 Citation Subset: IM |
Affiliation:
|
INSERM U745, Faculté des Sciences Pharmaceutiques et Biologiques, Université Paris Descartes, Paris Cedex 06, France. nadine.hanna@gmail.com |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Adaptor Proteins, Signal Transducing
/
genetics Amino Acid Substitution Cherubism / complications, genetics, pathology Child Child, Preschool DNA / analysis, genetics DNA Mutational Analysis Giant Cells / metabolism, pathology* Humans Male Mandible / pathology Noonan Syndrome / complications, genetics, pathology Point Mutation Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics Pulmonary Valve Stenosis / etiology SOS1 Protein / genetics* |
| Chemical | |
Reg. No./Substance:
|
0/Adaptor Proteins, Signal Transducing; 0/SH3BP2 protein, human; 0/SOS1 Protein; 9007-49-2/DNA; EC 3.1.3.48/PTPN11 protein, human; EC 3.1.3.48/Protein Tyrosine Phosphatase, Non-Receptor Type 11 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: A founder TMIE mutation is a frequent cause of hearing loss in southeastern Anatolia.
Next Document: A comparison study of the osseointegration of zirconia and titanium dental implants. A biomechanical...