:

Osama Y Safdar1,2,3, Miral M Abddulghfar2,3, Renad N Saaty2,3

  • 1Pediatric Nephrology Center of Excellence, King Abdluaziz University Hospital, Jeddah, Saudi Arabia.

概括

卡布基综合征2型,是一种罕见的遗传性疾病,可以引起由于KDM6A基因突变的严重新生儿低血糖症. 早期诊断和治疗对于预防神经发育并发症至关重要.

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