TBCK:退

Emily L Durham1, Rajesh Angireddy1, Aaron Black1

  • 1Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, PA, USA.

PubMed
概括

TBCK综合征是一种罕见的遗传疾病,表现为发育迟缓和独特的面部特征. 最近的研究为其TBCK基因功能和潜在的治疗策略提供了新的见解.

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