扩大棺材-西里斯综合征谱:在8例病例中发现了遗传,异形和内分泌的发现

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Updated: Mar 10, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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Abdulkerim Kolkiran1, Melike Ataseven Kulalı2, Tuğba Daşar3

  • 1Department of Pediatric Genetics, Ankara Etlik City Hospital, Ankara, Turkey. kolkiranaa@gmail.com.

European journal of pediatrics
|March 8, 2026
PubMed
概括

这项研究扩大了对棺材-西里斯综合征 (CSS) 的理解,详细介绍了它在八名患者中的多样化的遗传,异形和内分泌特征. 发现了新的变异,为这种罕见的神经发育障碍的遗传谱做出了贡献.

关键词:
在 ARID1B 里面,你会看到 ARID1B.这就是SMARCA4的标志.粗的脸粗的脸.棺材西里斯综合征 (CSS) 是一个疾病.发育迟缓 发展迟缓内分泌特征 内分泌特征面部形状障碍症 面部形状障碍症过高三症 过高三症

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