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与HYPK相关的神经发育综合征:智力障碍,发育迟缓和异形特征的案例报告

Rahi Patel1, Rikhil Makwana1, Elaine Marchi1

  • 1Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA.

Clinical genetics
|September 23, 2025
PubMed
概括

一种新的HYPK基因变异通过破坏蛋白质乙化,导致发育迟缓,自闭症和面部差异. 这项研究详细介绍了首次描述的HYPK变种.

关键词:
这就是HYPK.这就是NataA NatA.不同形状的面孔.这是神经发育综合征.

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