Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report.

Najlae Adadi,Maryem Sahli,Grégory Egéa,Ilham Ratbi,Mohamed Taoudi,Layla Zniber,Wafaa Jdioui,Said El Mouatassim,Abdelaziz Sefiani

Journal of medical case reports（2018）

引用 3|浏览9

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摘要

The identification of the genetic substrate in our patient, the daughter, confirmed the clinical diagnosis of Pompe disease and allowed us to provide appropriate genetic counseling to the family for future pregnancies.

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关键词

GAA gene,Moroccan family,Pompe disease,Post-mortem diagnosis

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