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Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica
Acrodermatitis enteropathica (AE) is an autosomal recessive disorder with the clinical triad of acral dermatitis, diarrhea and alopecia. AE is known to be caused by mutations of the SLC39A4 gene on the chromosome band 8q24.3, encoding the zinc transporter in human. An 8-month-old Korean boy presente...
Autores principales: | Park, Chang-Hun, Lee, Mee Jeong, Kim, Hee-Jin, Lee, Gunsong, Park, Joo-won, Cinn, Yong-woo |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
The Korean Academy of Medical Sciences
2010
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995241/ https://www.ncbi.nlm.nih.gov/pubmed/21165302 http://dx.doi.org/10.3346/jkms.2010.25.12.1818 |
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