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Updated: Feb 22, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

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FSD1Lのバイアレル変異は,L1症候群と重複する神経発達障害を引き起こす

Valentina Serpieri1, Myriam Vezain-Mouchard2, Alessia Orsi1

  • 1Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.

American journal of human genetics
|February 20, 2026
PubMed
まとめ

フィブロネクチン型IIIおよびSPRYドメインを含む1-like (FSD1L) の遺伝子変異は,重度の脳変形および神経発達障害を引き起こす. FSD1Lは,ニューロンの発達,シリオゲネシス,ミトスのスパインドルの機能に不可欠です.

キーワード:
FSD1 FSD1 についてFSD1L (FSD1L) とはL1症候群 L1症候群L1CAM L1CAM についてコムシュラル・アクソン・ナビゲーション生まれながらの水頭症です.コルパス・カロサム (corpus callosum) とはマイクロチューブルとはミトーシスのミトーシスプライマリ・シリウム プライマリ・シリウム

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