:

Samantha Saenz Hinojosa1, Carlos Reyes2, Vanessa I Romero1

  • 1School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.

Heliyon
|March 28, 2024
PubMed
概括

在资源有限的地区,诊断像CHARGE综合征这样的罕见遗传疾病可能具有挑战性. 基因测序发现了一种新的突变,在多年错误诊断后帮助诊断.

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