41 citations
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April 1997 in “Fertility and sterility” Clomiphene citrate can reverse low hormone levels and symptoms in male runners with hypogonadotropic hypogonadism.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
6 citations
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January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
8 citations
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April 1979 in “Journal of Cutaneous Pathology” Giant cells found in some male pattern baldness cases may help diagnose it and suggest hair is mistakenly seen as foreign by the body.
36 citations
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April 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” Canine hair follicles have stem cells similar to human hair follicles, useful for studying hair disorders.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
3 citations
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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.
29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.