July 2011 in “British Journal of Dermatology” Dermatologists give better information on pathology forms, hypersensitivity vasculitis is a common skin issue, misdiagnoses can occur, and various skin conditions are linked to loss of elastin or genetic factors.
37 citations
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June 2002 in “The Laryngoscope” This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
3 citations
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September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
39 citations
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April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.