Rasopathies - dysmorphic syndromes with short stature and risk of malignancy.

CONCLUSION: Despite the overlapping clinical features, Rasopathy syndromes exhibit unique fenotypical features and the precise molecular diagnostics may lead to confirmation of each syndrome. The molecular diagnostics may allow the detection of pathogenic mutation associated with tumorigenesis. PMID: 24156711 [PubMed - indexed for MEDLINE]
Source: Endocrine Regulations - Category: Endocrinology Tags: Endocr Regul Source Type: research