A Novel Frameshift Mutation of Galactosidase-alpha in Fabry Disease Restricted to Dermatologic Manifestations

A 28-year-old Asian male was referred for dermatologic evaluation of diffuse bluish-red maculopapules in the lower trunk and genital regions. There was no family history, and with the exception of dispersed skin lesions and hypohidrosis, no other complaints or symptoms were present. Histological eva...

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Detalles Bibliográficos
Autores principales: Kim, Dae Hun, Kim, Soo Yeon, Im, Myung, Lee, Young, Seo, Young Joon, Lee, Jeung Hoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Dermatological Association; The Korean Society for Investigative Dermatology 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3582937/
https://www.ncbi.nlm.nih.gov/pubmed/23467435
http://dx.doi.org/10.5021/ad.2013.25.1.95

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3582937/
https://www.ncbi.nlm.nih.gov/pubmed/23467435
http://dx.doi.org/10.5021/ad.2013.25.1.95

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