![]() ![]() Through SH2 domains, SHP-2 binds to activated receptors and adapter proteins that present specific phosphorylated tyrosines. The PTPN11 protein product, SHP-2 (Src homology region 2-domain phosphatase 2), is a ubiquitously expressed cytoplasmic protein member of a subfamily of protein tyrosine phosphatases that contains two Src homology 2 (C-SH2 and N-SH2) domains. For these reasons, we recommend the use of this scoring system by endocrinologists during the evaluation of short stature children to facilitate the recognition of patients with NS. criteria, which take in account the facial features, growth pattern, chest deformity and cardiac defects, have been shown to be an accurate tool for NS diagnosis. Analyses of clinical features in NS patients, who had their diagnosis confirmed by molecular study, demonstrated that no isolated clinical characteristic can ensure the diagnosis of NS however, the van der Burgt et al. Typical face and any other major sign or two minor signs establishes the diagnosis of NS, whereas patients with suggestive NS face need two major or three minor criteria to confirm the NS diagnosis. In this scoring system, patients are first classified according to facial features as having typical or suggestive NS characteristics. ![]() The van der Burgt scoring system is the most used model to select patients for molecular studies in recent studies. proposed a simple and accurate scoring system for the diagnosis of NS based on the variable clinical NS presentation in one family (table 2). These new criteria did not allow the diagnosis in patients with mild facial features. proposed that the diagnosis should be based on the presence of typical facial features in a patient with normal chromosomes plus short stature (height <10th centile for sex and age) and/or cardiac defect and/or undescended testicles in males. This complex first scoring system was difficult for routine use by non-geneticist specialists. proposed a scoring system for NS diagnosis with 26 items devised on the basis of frequency and severity of NS features in 23 typical patients. ![]()
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |