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Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature
BACKGROUND: Hereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays a role in the development of pain-sens...
Autores principales: | Elhennawy, Karim, Reda, Seif, Finke, Christian, Graul-Neumann, Luitgard, Jost-Brinkmann, Paul-Georg, Bartzela, Theodosia |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556355/ https://www.ncbi.nlm.nih.gov/pubmed/28807049 http://dx.doi.org/10.1186/s13256-017-1387-z |
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