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August 2017 in “Genetic testing and molecular biomarkers” A new mutation in the FLCN gene linked to Birt-Hogg-Dube syndrome was found, suggesting people with certain lung collapse should be tested for this mutation and screened for kidney and colon cancer.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Li2CO3 improved skin disease in a mouse model of Focal Dermal Hypoplasia without toxicity.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
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July 2025 in “Journal of Cutaneous Pathology” Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
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November 1998 in “Journal of Investigative Dermatology” A common mutation in the hHb6 gene is linked to monilethrix, but other factors may also play a role.
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February 2023 in “Journal of dermatology” The first Japanese case of a genetic hair disorder caused by specific mutations in the LIPH gene was identified.
November 2025 in “Journal of Investigative Dermatology” KLHL24-mutant stem cells help understand skin and heart disease.
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
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November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
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February 2004 in “Genomics” A gene mutation causes lanceolate hair in rats by disrupting hair shaft integrity.
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February 2009 in “Clinical and Experimental Dermatology” Hormone-replacement therapy improved a woman's skin condition known as lymphomatoid papulosis.
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July 2001 in “Journal of the American Academy of Dermatology” SLHA can be hard to diagnose and needs teamwork between specialists.
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January 2019 in “Open Journal of Internal Medicine” Diagnosing both systemic lupus and hemoglobinopathy is challenging due to overlapping symptoms.
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November 2018 in “American journal of human genetics” Mutations in the LSS gene cause a rare type of hereditary hair loss.
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October 1998 in “Experimental Dermatology” A keratin hHb6 mutation causes a hair disorder with varying severity, influenced by other factors.
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
November 2025 in “The Journal of Immunology” BTNL2 helps protect hair follicles from immune attacks, which could aid in treating alopecia areata.
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
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July 2016 in “Veterinary dermatology” Hyperaesthetic leucotrichia in horses causes painful, recurring skin lesions and hair color changes, especially in Arabian and American paint horses.
Lhx2 helps retinal cells respond to signals for eye development.
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November 2024 in “Journal of Investigative Dermatology” Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.