4 citations
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January 2011 in “Annals of Dermatology” Researchers found a new mutation in the HR gene linked to a rare hair loss condition.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
6 citations
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January 2021 in “Endocrine journal” A patient with Werner syndrome showed a range of aging-like symptoms and metabolic issues, underscoring the need for early detection and treatment.
10 citations
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July 2020 in “Clinics in Dermatology” Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
244 citations
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September 2008 in “Annual Review of Genomics and Human Genetics” The document concludes that the fast-growing direct-to-consumer genetic testing market lacks sufficient regulation, posing risks to consumers due to questionable test quality and accuracy.