RESUMEN

The diagnosis of Barth syndrome is challenging owing to the wide phenotypic spectrum with allelic heterogeneity. Here we report 3 cases of Barth syndrome with phenotypic and allelic heterogeneity that were diagnosed by different approaches, including whole exome sequencing and final confirmation by reverse-transcription polymease chain reaction.

Asunto(s)

Síndrome de Barth/diagnóstico , Factores de Transcripción/genética , Aciltransferasas , Síndrome de Barth/genética , Humanos , Lactante , Recién Nacido , Masculino , Mutación , Fenotipo , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa/métodos , Secuenciación del Exoma/métodos