Patients with clinical features suggestive of either NS, NSML, CFC, NF1, Legius syndrome or Noonan-like syndrome; patients with a clinical diagnosis of any of these syndromes that previously tested ...
Standardized and accurate variant assessment is essential for effective medical care. To that end, Clinical Genome (ClinGen) Resource clinical domain working groups (CDWGs) are systematically ...
RASopathies include disorders generally characterized by developmental delay, specific heart defects, short stature, cardiac hypertrophy, and facial dysmorphisms. Next-generation sequencing ...
Surprisingly high fraction of infertile men presenting congenital testicular maldescent, cryptorchidism, were revealed as undiagnosed cases of congenital RASopathy syndromes, as stated in a recent ...
Research teams have made progress in the study of a group of common genetic diseases termed RASopathies because they are caused by mutations in genes that are in the RAS pathway. Two research papers ...
Onconova is planning a sideways step for its lead cancer drug rigosertib—with help from a research consortium—that could open up new opportunities in rare diseases. The new collaboration focuses on ...
The RAS pathway is a cellular signaling pathway that regulates growth and development in humans. RASopathies are a group of diseases characterized by defects in RAS signaling. Many patients with ...
Trametinib, a mitogen-activated protein kinase (MEK) inhibitor, reduces mortality and morbidity in children with severe hypertrophic cardiomyopathy (HCM) caused by pathogenic variants in the RAS/MAPK ...
Antioxidants could prove to be effective in reducing behavioral issues in people diagnosed with genetic nervous system disorder Neurofibromatosis 1 (NF1) and its associated condition called Costello ...
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