Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic disorder due to pathogenic variants in the COL7A1 gene. In this study we determined the association between different categories of COL7A1 variants and clinical disease severity in 236 RDEB patients in North America. Published reports or in-silico predictions were used to assess the impact of pathogenic variants in COL7A1 on type VII collagen (C7) protein function.

Lessons learned from the experiences of newly qualified therapeutic radiography students who transitioned to work during the Covid-19 pandemic.

Introduction: The Covid-19 pandemic raised profound questions regarding healthcare values and responsibility for managing collective and individual needs. This context presents a unique opportunity to explore the experiences of newly qualified therapeutic radiographers transitioning to work.

Method: An interpretivist qualitative design used one-to-one, semi-structured interviews.

Phenotypic Spectrum of GNA11 R183C Mosaicism.

Background: Many vascular anomalies harbor postzygotic somatic variants in GNAQ and GNA11; however, the phenotype of specific G-protein variants has not been well described. We report the clinical characteristics of 17 patients with a GNA11 R183C variant.

Methods: This case series is derived from a multinational cohort of vascular anomaly patients whose pathogenic mutations were identified using high-depth next generation sequencing.