7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
49 citations
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January 2006 in “Developmental Dynamics” Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
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June 2014 in “Anais Brasileiros de Dermatologia” Clouston Syndrome can be linked to rare sweat gland tumors.
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June 1983 in “Journal of Neurochemistry” Copper therapy improved health and enzyme activity in mice with copper deficiency.
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January 1970 in “Journal of Bangladesh College of Physicians and Surgeons” Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
3 citations
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May 2013 in “Pediatric Dermatology” A newborn girl had a rare case of salivary gland tissue on her chest, which was safely removed.
The AMHR2-482A>G gene change is linked to higher PCOS risk.
November 2022 in “Journal of the Endocrine Society” A rare ovarian tumor caused high testosterone and excess hair in a woman, which was resolved after tumor removal.
May 2022 in “International Journal of Trichology” Recognizing bamboo hair helps diagnose Netherton’s syndrome.
2 citations
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May 2020 in “JAAD case reports” Ruxolitinib can cause a delayed skin reaction on the nose.
December 2025 in “SAS Journal of Medicine” Trichofolliculoma is a rare, benign scalp tumor that can be cured by surgical removal.
2 citations
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September 2021 in “JCPSP. Journal of the College of Physicians & Surgeons Pakistan” Women with PCOS have thicker parafoveal areas in their retinas, but their macular blood vessel density is normal.
July 2010 in “Journal of Investigative Dermatology” Scientists found gene mutations that affect hair loss, skin stem cells, and skin disorders, and identified drugs that may help treat blood vessel and skin conditions.
October 2025 in “Pediatric Dermatology” A 16-year-old boy's facial condition improved with doxycycline, suggesting an immune response to hair follicle damage.
September 2005 in “Revue de Stomatologie et de Chirurgie Maxillo-faciale” 18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
September 2024 in “Cermin Dunia Kedokteran” Improving medical training is key to eradicating frambusia by 2030.
17 citations
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April 2006 in “Brain Research” 5α-reduced neurosteroids may help regulate glial cell differentiation.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Hutchinson-Gilford Progeria Syndrome causes rapid aging due to a gene mutation, with no cure yet, but research may lead to better treatments.
2 citations
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November 2022 in “Scientific reports” Using gelatin sponges for deep skin wounds helps bone marrow cells repair tissue without scarring.
31 citations
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June 1997 in “International Journal of Dermatology” Chemotherapy successfully treated both Hodgkin's disease and skin lesions.
March 2026 in “JCEM Case Reports” Surgery removed ovarian tumors, normalizing testosterone and improving symptoms.
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July 2017 in “Australasian Journal of Dermatology” Reflectance confocal microscopy is useful for diagnosing scalp melanomas, which have features similar to those on the trunk.
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September 2006 in “The Journal of Immunology” MILL molecules are unique immune proteins in mice that don't need TAP to appear on cell surfaces.
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July 2018 in “Journal of Cosmetic Dermatology” Common latent viruses might contribute to male-pattern baldness by disrupting cell processes that normally suppress hair loss-related proteins.
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October 1997 in “Nature” 21 citations
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March 2015 in “Neurological Sciences” A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
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August 2015 in “Journal of the Korean neurological association” A man had a rare stroke possibly due to taking finasteride, which might have increased his hormone levels causing a blood clot. His memory loss didn't fully recover even after stopping the medication.
November 2011 in “APMIS. Acta pathologica, microbiologica et immunologica Scandinavica./APMIS” Polyomavirus A2 infection in newborn mice caused hair follicle tumors.