GENE SCENE SPOTLIGHT: This gene has been in the news (and many commercials) due to the impact that emerging treatments have had for some patients diagnosed with TTR Amyloidosis. Clinical Phenotype Summary: The TTR gene encodes the transthyretin protein and is located on chromosome 18q12.1. Pathogenic variants in this …
We had the opportunity to connect with Renie and Philip Moss ahead of Neurofibromatosis Awareness Month. Philip has neurofibromatosis type 1 (NF1). It is associated with many features but most often causes growths called neurofibromas (usually benign) as well as characteristic skin and eye findings.1 Malignant or cancerous tumors are rare.1 You …