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Kearns-Sayre syndrome presenting as isolated growth failure

Failure to thrive arises from a heterogeneous group of paediatric disorders including defects in energy metabolism such as mitochondrial diseases. Illustrating this, we describe a girl with poor growth who eluded diagnosis until she developed characteristics of Kearns-Sayre syndrome. Her history emp...

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Autors principals: Holloman, Conisha Mone, Wolfe, Lynne A, Gahl, William A, Boerkoel, Cornelius F
Format: Artigo
Idioma:Inglês
Publicat: BMJ Publishing Group 2013
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3604337/
https://ncbi.nlm.nih.gov/pubmed/23420719
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-007272
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