CSC researchers contribute to novel discovery of de novo and inherited variants in GBF1
Posted on September 29, 2020
STRASBURG, PA- A new study details the identification of pathogenic variants in the gene GBF1 in four unrelated families with individuals affected by Charcot-Marie-Tooth neuropathy (CMT2) or hereditary motor neuropathies (HMNs). The study includes a long-term patient of the Clinic for Special Children (CSC) and details an example of gene discovery work at CSC. The project was a broad, international collaborative effort with contributions from clinicians and researchers at CSC and appears in The American Journal of Human Genetics in September 2020.