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Updated: Jul 8, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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

ペリセントリン (PCNT) 遺伝子の突然変異は,原始小人症を引き起こす

Anita Rauch1, Christian T Thiel, Detlev Schindler

  • 1Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany. Anita.Rauch@humgenet.uni-erlangen.de

Science (New York, N.Y.)
|January 5, 2008
PubMed
まとめ

ペリセントリン (PCNT) 遺伝子の遺伝子変異は,原始的小人症を引き起こす. この希少な疾患は,極端に身長が短く,小頭症を引き起こし,人間の成長過程に影響を及ぼします.

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