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January 2014 in “Journal of Pediatric Endocrinology and Metabolism” Three new gene mutations cause rickets and hair loss, treatable with high calcium and calcidol, but hair regrowth is rare.
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February 2008 in “Nature genetics” Mutations in the P2RY5 gene cause autosomal recessive woolly hair.
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Metabolic processes and key genes like FGF5, FGFR1, and RRAS significantly affect hair follicle growth in Inner Mongolian Cashmere goats.
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
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December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
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October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.