July 2025 in “Journal of Cutaneous Pathology” Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
23 citations
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February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
February 2021 in “Journal of the Korean Ophthalmological Society” A 7-year-old girl had unusually long eyelashes with no known cause or related health issues.
41 citations
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July 2018 in “Frontiers in Neurology” Myotonic dystrophy may be classified as a segmental progeroid disorder.