The AMHR2-482A>G gene change is linked to higher PCOS risk.
January 2013 in “日本泌尿器科学会雑誌”
5 citations
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December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
2 citations
,
January 2023 in “Annals of Dermatology”
A neck lesion misdiagnosed as benign was later treated successfully with Mohs Micrographic Surgery.
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.
1 citations
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October 2022 in “Curēus” Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
6 citations
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March 2009 in “Annals of Saudi Medicine” Finasteride use during early pregnancy may cause limb deformities in babies.
July 2025 in “International Journal of Trichology” Trichoscopy effectively diagnoses temporal triangular alopecia in children.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
1 citations
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August 2009 in “ACTUALIDAD MEDICA” Patients with early-onset androgenetic alopecia have a higher risk of metabolic syndrome and carotid arteriosclerosis, suggesting the need for early cardiovascular screening and prevention.
33 citations
,
May 2018 in “Stem Cell Reports” Krt15+ cells in the mouse intestine resist radiation and can start tumors.
May 2021 in “Journal of the Endocrine Society” A 23-year-old woman's missed periods were caused by a rare genetic disorder treated with hormone patches.
October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
September 1997 in “Clinical and Experimental Dermatology” Introducing the OTC gene improved symptoms in mice with OTC deficiency.
12 citations
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July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
2 citations
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July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
20 citations
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December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
December 2024 in “Indian Journal of Dermatology Venereology and Leprology” Atypical male hair loss may not respond to usual treatments.
June 2024 in “Annals of Medicine and Surgery” A 23-year-old Syrian woman has two rare hair disorders, and avoiding hair treatments plus using vitamins and minoxidil may help.
14 citations
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December 1998 in “British Journal of Cancer” Truncated hHb1 keratin may play a role in breast cancer cell transformation.
9 citations
,
December 2012 in “Indian Journal of Dermatology Venereology and Leprology” Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
30 citations
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June 2016 in “Journal of Human Genetics” Researchers found genetic mutations causing hypohidrotic ectodermal dysplasia in 88% of studied patients and identified new mutations and genetic variations affecting the disease.
February 2026 in “Frontiers in Pediatrics” Consider trichobezoars in young girls with vague symptoms for accurate diagnosis.
May 2023 in “Surgical Case Reports” A woman's hair loss improved after removing a tumor in her thymus gland, suggesting hair loss can be linked to such tumors even without a specific muscle weakness condition.
3 citations
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January 1985 in “Acta Obstetricia Et Gynecologica Scandinavica” A rare ovarian tumor caused early puberty signs in a 1-year-old girl, but surgery reduced hormone levels.
56 citations
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.