January 2013 in “The Pan African medical journal” Monilethrix causes short, fragile hair with no specific treatment available.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” An 8-year-old boy with neurofibromatosis type one also has rare hair and eye disorders.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
January 2017 in “Turkiye Klinikleri Journal of Dermatology” A 9-month-old baby had a rare, persistent ring-shaped hair loss condition.
January 2011 in “Linchuang pifuke zazhi” 25 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific gene mutation causes varying hair loss severity in a Pakistani family.
July 2023 in “The Keio Journal of Medicine” Certain gene variants can cause inherited hair diseases, which are important to diagnose and understand for patient care.
1 citations
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September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
14 citations
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May 2017 in “Journal of Investigative Dermatology” A rare gene mutation causes skin fragility and itching without affecting hair or nails.
2 citations
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May 2011 in “International Journal of Dermatology” A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.