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Updated: Jun 3, 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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由22q11.2微切除引起的孤独的中间大中央切口综合征

Hirohito Shima1, Akinobu Miura1, Sayaka Kawashima1

  • 1Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
|January 8, 2025
PubMed
概括

这项研究报告了一种罕见的22q11.2微切除综合征病例,与单独的中央尖刀 (SMMCI) 相关. 这些发现突出了22q11.2删除和SMMCI之间的潜在临床联系,表明非基同源重组作为一种机制.

关键词:
22q11.2微删除综合征 22q11.2微删除综合征增长减缓 增长减缓 增长减缓甲状腺功能低下症 甲状腺功能低下症非基同源重组 (NAHR) 的方法.孤独的中中央切口 (SMMCI) 综合征

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