research Tumor Mapping in 2 Large Multigenerational Families With CYLD Mutations
CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
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5 / 47 results research CPC14 Blaschko-linear trichoepitheliomas: unveiling type 1 segmental mosaicism
A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
research British Society for Dermatopathology: Summaries of Papers
Some skin conditions are associated with other serious diseases, and office microscopy may miss many fungal infections.
research Cylindroma as Tumor of Hair Follicle Origin
Cylindromas likely originate from hair follicle stem cells, not sweat glands.
research Novel TMEM173 Mutation and the Role of Disease Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
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