20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
20 citations
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November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
14 citations
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August 2010 in “Journal of Investigative Dermatology” HPV does not cause aggressive cancer in RDEB patients.
10 citations
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November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
8 citations
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September 1987 in “Acta Dermato Venereologica” Recessive X-linked ichthyosis involves a less efficient enzyme in hair follicles, suggesting two distinct enzymes.