August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
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.
26 citations
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April 2011 in “British Journal of Dermatology” New mutations in the DSG4 gene cause a rare hair condition.
1 citations
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December 2022 in “BMC Genomics” The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
53 citations
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August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
37 citations
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January 1993 in “Journal of Investigative Dermatology” 83 citations
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October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
November 2022 in “Journal of Investigative Dermatology” ILC1-like cells can cause alopecia areata by themselves.
4 citations
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November 2020 in “Acta Dermato Venereologica” Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.