儿科阿舍尔综合征2A型与同时存在的风湿性心脏病和上胃肠道出血:一个病例报告

Bishal Yadav1, Tunam Khadka1, Toyendra Jung Shah1

  • 1Department of Pediatrics, Kanti Children's Hospital, Maharajgunj, Kathmandu, Nepal.

概括

阿舍尔综合征是一种导致听力和视力损失的遗传性疾病,可以使用整个外基因组测序来早期诊断. 及时诊断Usher综合征IIA型有助于控制症状,并可能延迟失明.

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