December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
2 citations
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March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” A girl had rickets due to a gene mutation affecting vitamin D response.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
10 citations
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August 1998 in “Journal of Investigative Dermatology” 
25 citations
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October 1976 in “The BMJ” A woman showed neurological symptoms from psittacosis linked to bird exposure, improving after antibiotic treatment.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
14 citations
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November 2018 in “Journal of drug delivery and therapeutics” Ethosomes are effective, safe carriers for delivering drugs through the skin.
April 2023 in “Tropical Animal Health and Production” Giving melatonin to sheep before the non-breeding season can improve their chances of reproducing in northwest Mexico.
February 2026 in “Indian Journal of Skin Allergy” Ruxolitinib cream effectively treats skin conditions like atopic dermatitis and vitiligo with minimal side effects.