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Case report detailed audiological evaluation of a patient ...

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Disease, genetic hearing loss, type 1 diabetes, xeroderma pigmentosum ... patterns of inheritance are all possible (patzkó and. shy, 2011).
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Case ReportDetailed Audiological Evaluation of a Patient withXeroderma Pigmentosum with Neural DegenerationDOI: 10.3766/jaaa.15112Danielle Mercer*Annette Hurley†Fern Tsien*AbstractBackground: Xeroderma pigmentosum (XP) is a rare autosomal recessive condition characterized byextreme sensitivity to ultraviolet light. Individuals with XP lack the ability to repair DNA (deoxyribonucleicacid) damage caused by ultraviolet radiation, leading to sunburn and increased susceptibility to skin can-cers. Approximately 25% of patients also exhibit neural degeneration, which includes progressive mentaldeterioration, cortical thinning, and sensorineural hearing loss.Purpose: Herein, we describe the audiological and genetic findings in a patient with XP subtype D withneural degeneration and hearing loss.Research Design: This is a case report of a patient with XP subtype D, type 1 diabetes, and some clinicalfeatures typical of Charcot-Marie-Tooth disease.Data Collection and Analysis: We obtained audiolo...
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