2 citations
,
August 2002 in “British Journal of Ophthalmology” Tangent screens help detect visual field defects from vigabatrin.
75 citations
,
September 2007 in “Journal of Heredity” FGF5 gene mutations cause long hair in domestic cats.
13 citations
,
March 2021 in “British Journal of Pharmacology” KY19382 helps regrow hair and create new hair follicles.
29 citations
,
June 2010 in “The Journal of Dermatology” Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
24 citations
,
January 2019 in “Theranostics” Loss of Pten in certain hair follicle stem cells increases skin cancer risk.
KY19382 helps to regrow hair and create new hair follicles.
6 citations
,
January 2014 in “Clinical hemorheology and microcirculation” Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
4 citations
,
August 2007 in “PubMed” A woman lost all her body hair after hepatitis C treatment, but it started to grow back a year after stopping the treatment.
October 2014 in “Journal of Minimally Invasive Gynecology” Genetic testing for cancer risk can lead to early and life-saving treatments in people without symptoms.
February 2024 in “Future science OA” Loss of the Y chromosome and UTY gene activity increases cancer risk in men.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
37 citations
,
June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
April 2020 in “Journal of the Endocrine Society” Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
16 citations
,
August 2002 in “Journal of Interferon and Cytokine Research” A man developed excessive hair growth after treatment with interferon-alpha and ribavirin for hepatitis C.
88 citations
,
August 1998 in “Carcinogenesis” High levels of ODC and a mutant Ha-ras gene cause tumors in mice.
11 citations
,
March 2014 in “Journal of The European Academy of Dermatology and Venereology” Hair loss gene linked to prostate issues.
August 2025 in “International Journal of Contemporary Pediatrics” HLD10 can include increased body hair and Mongolian spots.
August 2023 in “Journal of the American Academy of Dermatology” CCCA affects Black men too, with a genetic link found in the PADI3 gene.
39 citations
,
September 2012 in “Human Reproduction” Certain genetic variations in the SHBG gene are linked to an increased or decreased risk of PCOS in Mediterranean women.
5 citations
,
April 2023 in “Life” CCCA affects adolescents too, with genetic and environmental links, requiring careful diagnosis.
October 2024 in “Medicine” Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
December 2023 in “International Journal of Dermatology”
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
8 citations
,
March 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” The 14-3-3σ gene is essential for preventing hair loss.
February 2025 in “Geriatrics and gerontology international/Geriatrics & gerontology international” Genetic testing is recommended for young patients showing signs like cataracts and hair changes to diagnose Werner syndrome early.
November 2023 in “Scientific Reports” A gene mutation in Lama3 is linked to a common type of hair loss.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
12 citations
,
September 2017 in “JDR Clinical & Translational Research” Early detection of specific VDR mutations is crucial for effective treatment and better dental outcomes in children with hereditary vitamin D–resistant rickets.
8 citations
,
June 2001 in “Journal of Biological Chemistry” A truncated protein linked to breast cancer may change cell adhesion.
January 2019 in “Proceedings for Annual Meeting of The Japanese Pharmacological Society” Nε-(carboxymethyl) lysine delays hair growth by blocking a key protein.