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Updated: May 23, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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基因组测序揭示了皮层发育形和免疫功能障碍中的CCDC88A变异

Johanna Lehtonen1,2,3,4, Anna H Hakonen5, Antti Hassinen2

  • 1Centre for Molecular Medicine Norway (NCMM), University of Oslo, Oslo Science Park, Gaustadalléen 2, Oslo 0349, Norway.

Human molecular genetics
|May 22, 2025
PubMed
概括

在CCDC88A的遗传变异导致皮质发育 (MCD),小头症和的形. 这项研究确定了兄弟姐妹的复合异合体变体,揭示了与带缺陷相关的细胞和免疫缺陷.

关键词:
CCDC88A 这是一本书.行动性病变 (actinopathy) 是一种行动性病变.吉尔丁吉尔丁 (GirdinGirdin) 是一个很大的城市.免疫缺陷是一种免疫缺陷.皮层发育的形.

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