5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.
18 citations
,
November 2016 in “Neuromuscular Disorders” This study found that patients with myotonic dystrophy types 1 and 2 often exhibit skin abnormalities, which correlate with genotype severity and serum vitamin D levels, and suggest premature aging.
201 citations
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May 2001 in “Proceedings of the National Academy of Sciences” This study found that transgenic expression of COX-2 in mouse basal keratinocytes causes epidermal hyperplasia and certain dysplastic features at specific body sites.
18 citations
,
October 2002 in “Veterinary dermatology” This study observed that follicular dysplasia in Weimar Pointers produces histopathological features and hair abnormalities similar to color dilution alopecia, though less severe.
May 2026 in “Clinical and Experimental Dermatology” This study reports a 10-year-old boy with ectodermal dysplasia and progressive balding experienced reduced hair shedding and increased hair density after four months of sublingual minoxidil treatment, without side-effects.