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新的STAG2变种扩展了穆莱加马-克莱因-马丁内斯综合征表型

Cormac Duff1, Samy Allawendy1, Andrew J Green2

  • 1Children's Health Ireland at Temple Street, Dublin, Ireland.

European journal of medical genetics
|June 2, 2025
PubMed
概括

一种新的STAG2基因变异扩大了Mullegama-Klein-Martinez综合征 (MKMS) 的临床谱. 这种凝聚力病例突出了严重的智力障碍和以前不相关的垂体功能障碍,强调了针对性查的必要性.

关键词:
急性功能衰竭急性功能衰竭是什么中央糖尿病无味症 (CID) 是一种糖尿病.凝聚力复杂的凝聚力复杂.与凝聚素相关的基因凝聚性病理学是一种凝聚性病理学.宫外垂体后垂体腺体穆莱加马-克莱因-马丁内斯综合征第二个阶段:第二个阶段这是一个X-linked.

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