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August 2020 The Shaven mutation in mice affects hair growth and causes a greasy coat due to abnormal lipid content.
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September 1992 in “Endocrinology” The human type II 5α-reductase gene has a specific structure important for understanding certain medical conditions.
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July 2002 in “Molecular and cellular biology” Overexpressing Dsg3 in mice skin causes excessive cell growth and abnormal skin development.
February 2024 in “BMC genomics” The TRPV3 gene variant may cause the long-haired suri alpaca coat.
September 2016 in “European Journal of Pediatric Dermatology/PD. European journal of pediatric dermatology” Ulerythema ophryogenes causes hair thinning and inflammation, with limited treatment options.
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January 2019 in “Advances in Clinical and Experimental Medicine” Certain variations in the vitamin D receptor gene are linked to an increased risk of polycystic ovary syndrome.
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January 2023 in “International Journal of Zoological Investigations” Certain genetic variations in IL-16 may increase the risk of alopecia areata.
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.