31 citations
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August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
12 citations
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February 2008 in “Journal of The American Academy of Dermatology” Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
Plakophilin 1 helps control skin cell immune responses to prevent excessive inflammation.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
54 citations
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May 2019 in “Multiple Sclerosis and Related Disorders” Azathioprine can help with relapses and disability in NMOSD but has more side effects and needs more research.