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Updated: Sep 9, 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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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

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2つのイラン系家族における小脳低増殖と広範な神経発達遅延に関連したSKOR2遺伝子の2つの新しい病原性変異の特定

Mohammad Ali Farazi Fard1, Zahra Tabatabaei1, Mobarakeh Ajam-Hosseini2

  • 1Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Fars, Iran.

Journal of human genetics
|September 1, 2025
PubMed
まとめ

SKOR2遺伝子の変異は 神経発達障害を 引き起こします この研究は,新しいSKOR2変異を特定し,Skor2関連症候群の現象スペクトルを拡張し,早期診断を助けます.

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