Novel compound heterozygous STN1 variants are associated with Coats Plus syndrome

ConclusionGiven the clinical phenotype and identified variants we suggest that this is only the fourth patient reported to date with CP due to mutations inSTN1.

Source: Molecular Genetics & Genomic Medicine - June 10, 2021 Category: Genetics & Stem Cells Authors: Tanvi Acharya, Helen V. Firth, Shilpa Dugar, Tassos Grammatikopoulos, Luis Seabra, Angharad Walters, Yanick J. Crow, Alasdair P. J. Parker Tags: CLINICAL REPORT Source Type: research