105 citations
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April 2014 in “Trends in Pharmacological Sciences” Targeting the Smoothened receptor shows promise for treating certain cancers.
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
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August 1988 in “Journal of Investigative Dermatology” January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
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April 2001 in “Journal of Investigative Dermatology” The keratin tail is crucial for skin structure and function.
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