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Anesthesia for patients with PTRF mutations: a case report

BACKGROUND: Polymeraze I and transcript release factor (PTRF) mutations are a newly recognized disease, which cause congenital generalized lipodystrophy associated with myopathy. CASE PRESENTATION: A 29-year-old man (height 126 cm; weight 22 kg) with a PTRF mutation was scheduled for mandibular dent...

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Detalles Bibliográficos
Autores principales: Hirano, Atsuko, Takada, Tomohiko, Senda, Mariko, Takahashi, Hidemasa, Suzuki, Takeo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5804690/
https://www.ncbi.nlm.nih.gov/pubmed/29457121
http://dx.doi.org/10.1186/s40981-017-0139-9