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Updated: May 12, 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

拡張性心筋病症と感覚神経性聴力障害: 6q23-24にマッピングされる遺伝性症候群

J Schönberger1, H Levy, E Grünig

  • 1Department of Genetics and Howard Hughes Medical Institute, Harvard Medical School, Boston, MA 02115, USA.

Circulation
|April 19, 2000
PubMed
まとめ

新しい遺伝疾患が,青少年の聴力障害と大人の心不全を結びつけている. 染色体6q23-24の変異によって引き起こされるこの心聴力症候群は,リスクのある個人を早期に特定することを可能にします.

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