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Updated: Jun 6, 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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银-拉塞尔综合征患者的罕见原因和差异诊断

Barbara Leitao Braga1, Renata da Cunha Scalco2, Thais Kataoka Homma2

  • 1Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular (LIM42), Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Clinical genetics
|November 25, 2024
PubMed
概括

分子研究确定了银 - 拉塞尔综合征 (SRS) 的常见原因,包括11p15.5甲基化损失和母体单亲染色体7的异构. 该研究还发现了各种遗传缺陷和替代诊断,突出显示了在SRS病例中需要进行全面的遗传检测.

关键词:
银 - 拉塞尔综合征是什么?表观遗传学是指表观遗传学.遗传学 遗传学 遗传学 是一个给人们留下了无序的印记.分子诊断 分子诊断 分子诊断

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