A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
80 citations
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March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
March 2022 in “Benha Journal of Applied Sciences” AGA patients have higher insulin resistance and serum progranulin levels, suggesting a link to metabolic issues.
39 citations
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January 2020 in “Frontiers in Genetics” PDGFC gene may help select goats with desirable curly wool traits.
22 citations
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April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
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.
1 citations
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June 2015 in “Australasian Journal of Dermatology” A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
29 citations
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September 1942 in “Archives of ophthalmology” Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
5 citations
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November 1979 in “PubMed” A hereditary condition causes hair loss and twisted hair in some family members.
4 citations
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January 2023 in “Journal of Clinical Investigation” Specific mutations in a receptor cause facial abnormalities and hair loss.
May 2015 in “Journal of The American Academy of Dermatology” A woman with Parry-Romberg syndrome developed new curly hair on one side of her scalp, a condition not previously linked to the syndrome.
45 citations
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July 2009 in “Journal of human genetics” A gene variation is linked to hair thickness in Asians.
September 2024 in “Medicine theory and practice” A young girl's hyperandrogenism was caused by an adrenocortical adenoma, diagnosed and treated through detailed evaluations.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
20 citations
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March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” MPZL3 is crucial for seborrheic dermatitis development.
1 citations
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March 2010 in “Internal medicine journal” A 72-year-old man with sudden taste issues and hair growth was diagnosed with a severe stomach cancer and died within 5 months.
January 2024 in “JAAD case reports” Netherton syndrome can cause severe and chronic vulvovaginal symptoms that may improve with continuous oral contraceptives.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
October 2020 in “Clinical and Experimental Dermatology” Hair loss improved after removing pituitary tumor.
74 citations
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July 2010 in “The Journal of Clinical Endocrinology & Metabolism” Treatment of acromegaly can improve women's reproductive health issues caused by hormonal imbalances or tumors.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
April 2025 in “Dermatology Practical & Conceptual” Increased LC3 gene expression may be linked to premature graying of hair.
4 citations
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December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
5 citations
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November 2013 in “Journal of Investigative Dermatology” The glucocorticoid receptor helps protect skin from tumors and other issues.
May 2017 in “The journal of immunology/The Journal of immunology” Patients with certain FoxN1 gene mutations have severe immune issues but normal skin and hair.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.