Article
A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.
American journal of medical genetics. Part A - 1 Jun 2012
Fahrner Jill A, Frazier Aisha, Bachir Suha, Walsh Michael F, Applegate Carolyn D, Thompson Reid, Halushka Marc K, Murphy Anne M, Gunay-Aygun Meral
Abstract excerpt
The RAS-MAPK pathway is critical for human growth and development. Abnormalities at different steps of this signaling cascade result in neuro-cardio-facial-cutaneous syndromes, or the RASopathies, a group of disorders with overlapping yet distinct phenotypes. RASopathy patients have variable degrees of intellectual disability, poor growth, relative macrocephaly, ectodermal abnormalities, dysmorphic features, and...
Topics
- Amino Acid Sequence
- Cardiomyopathy, Hypertrophic
- Female
- Humans
- Infant
- Mitogen-Activated Protein Kinases
- Molecular Sequence Data
- Mutation
- Phenotype
- Protein Tyrosine Phosphatase, Non-Receptor Type 11