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Updated: Feb 18, 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

9.1K

モザイク色とりどりのアヌプロイド症候群における新しいCEP57遺伝子変異2:症例報告

Cristina Pellicer Viudes1, María Mansó Borrás2, Susana Enrique Madrid1

  • 1Department of Pediatrics, Hospital Comarcal de Vinaroz, Vinaroz, Spain.

Journal of pediatric endocrinology & metabolism : JPEM
|February 17, 2026
PubMed
まとめ

モザイク多様性アヌプロイド症候群2 (MVA2) は,CEP57遺伝子変異によって引き起こされる珍しい遺伝疾患です. このケースは,MVA2.2の既知のスペクトルを拡張し,新しいホモジゴスCEP57変種を強調しています.

キーワード:
CEP57遺伝子の遺伝子について成長の遅延 成長の遅延モザイク色とりどり アヌプロイディ低身長 低身長 低身長

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