About
Contact & Profiles
A5084779492
Research Areas
- Skin and Cellular Biology Research
- Body Composition Measurement Techniques
- Wnt/β-catenin signaling in development and cancer
- Diabetes Management and Education
- Corneal surgery and disorders
- Medical Practices and Rehabilitation
- Clinical practice guidelines implementation
- Contact Dermatitis and Allergies
- Medical and Health Sciences Research
- Nutrition and Health in Aging
- Chronic Disease Management Strategies
- Glaucoma and retinal disorders
- Linguistic Education and Pedagogy
Odense University Hospital
1997-2024
Abstract Palmoplantar keratoderma (PPK) is a heterogeneous group of rare skin diseases characterized by hyperkeratosis on the palms or soles. The subtype isolated punctate PPK caused heterozygous variants in AAGAB . We investigated if variant c.370C>T, p.Arg124Ter patients with Region Southern Denmark represented founder and estimated age to most recent common ancestor. performed haplotype analysis samples from 20 diagnosed variant. Using Gamma Method, we calculated years also explored...
10.1111/cge.14486
article
EN
cc-by-nc-nd
Clinical Genetics
2024-02-04
10.1681/asn.2024vpj041x7
article
EN
Journal of the American Society of Nephrology
2024-10-01
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