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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...

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Detalhes bibliográficos
Publicado no:J Med Case Rep
Main Authors: Elhennawy, Karim, Reda, Seif, Finke, Christian, Graul-Neumann, Luitgard, Jost-Brinkmann, Paul-Georg, Bartzela, Theodosia
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5556355/
https://ncbi.nlm.nih.gov/pubmed/28807049
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-017-1387-z
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