Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome.

Nicola Tovaglieri,Silvia Russo,Emanuele Micaglio,Angela Corcelli,Simona Lobasso

Frontiers in pediatrics（2023）

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摘要

Our report supports the underestimation of the prevalence of Barth syndrome, which should be always considered in the differential diagnosis of male patients with recurrent neutropenia with or without signs and symptoms of cardiomyopathy.

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关键词

diagnosis,syndrome,clinical features

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