December 2022 in “Acta Ophthalmologica” In this study, dutasteride treatment in retinitis pigmentosa mice increased photoreceptor survival and reduced glial activation, suggesting it may offer a neuroprotective effect.
5 citations
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January 2002 in “European journal of pediatrics” "D-CHRAMPS syndrome" is a newly identified condition with multiple severe symptoms.
35 citations
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August 2006 in “Molecular genetics and metabolism” This study found significant variation in tissue mutant load in individuals with the T8993G mutation, which complicates genetic counseling and may inform genotype-phenotype correlations, especially using hair bulb mtDNA analysis.
13 citations
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September 2011 in “Archives of dermatology” This case report describes a 3-year-old male with X-linked ichthyosis and associated neurologic abnormalities, identifying an unusual cortical development malformation and suggesting that abnormal hair banding may assist diagnosis.
April 2022 in “Actas Dermo-Sifiliográficas” This article discusses the case of a 59-year-old woman with a history of progressive facial hyperpigmentation and explores potential connections between her condition and her family history, but reports no clinical findings.