33 citations
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September 1987 in “American Journal of Medical Genetics” This study documents dominant transmission and complete penetrance of uncombable hair syndrome in a family, despite the father lacking visible abnormalities.
17 citations
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January 1991 in “Acta Dermato Venereologica” This report describes a Danish family with autosomal dominant hypotrichosis, where affected members experienced gradual diffuse hair loss leading to near-total scalp alopecia by ages 14-21.
April 1977 in “Pediatric Research” 203 citations
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November 1984 in “Journal of the American Academy of Dermatology” This study presents evidence suggesting that androgenetic alopecia is most likely inherited through a polygenic model, challenging the traditional view that it is caused by a simple Mendelian autosomal dominant gene.
6 citations
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July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.