18 citations
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November 2016 in “Neuromuscular Disorders” Patients with myotonic dystrophy often have skin problems that suggest early aging and vitamin D issues, and the severity of these problems is linked to their genetic condition and vitamin D levels.
18 citations
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April 2016 in “Endocrinology and Metabolism Clinics of North America” The document concludes that diagnosing PCOS in teenagers is difficult and should focus on specific hormone levels and menstrual irregularities, while also considering treatment for symptoms and related health issues.
16 citations
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January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
12 citations
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November 2014 in “Bioscience, Biotechnology, and Biochemistry” Genetically modifying a bacteria and changing its growth conditions significantly increased the production of a chemical called dipicolinic acid.
12 citations
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August 2011 in “Asian-Australasian Journal of Animal Sciences” KAP8.1 gene variations affect cashmere weight in Inner Mongolian goats.
11 citations
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May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
11 citations
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March 2001 in “Clinics in Dermatology” Hair microscopy is useful for diagnosing hair disorders, but clear definitions are needed for accurate genetic analysis.
10 citations
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March 2019 in “Human Genetics” A genetic mutation in the SGK3 gene causes hairlessness in Scottish Deerhounds and may relate to human hair loss.
10 citations
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March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
9 citations
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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.