1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
15 citations
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October 1976 in “Biochemical Journal” Naked-mouse hair lacks certain proteins and has less soluble fibril.
20 citations
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January 2009 in “International Journal of Dermatology” Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
75 citations
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September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
20 citations
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June 2010 in “Dermatology Online Journal” Zinc supplements and weaning cured a breast-fed baby's zinc deficiency caused by a gene mutation.
3 citations
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April 2009 in “Pediatrics in review” Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
191 citations
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November 1959 in “Annals of the New York Academy of Sciences” Hair and wool have complex microscopic structures with microfibrils and varying cystine content.
6 citations
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August 2011 in “Anais Brasileiros de Dermatologia” Vellus hair cysts can cause acne-like bumps that don't respond to treatment.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.