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Updated: May 28, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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两个患有波雷蒂-博尔特豪泽综合征的兄弟姐妹的表型变异性

Karolyne Michele Moura Raftopoulos1, Fernanda Sousa Nascimento Chiang1, Lorena de Melo Gama1

  • 1Department of Medical Genetics, Apoio Hospital, Brasília, Distrito Federal, Brazil.

Global medical genetics
|February 10, 2025
PubMed
概括

波雷蒂-博尔特豪泽综合征 (PBS) 呈现出显著的家族内变异性,即使具有相同的LAMA1突变. 这项研究显示了不同的表现,包括一个兄弟姐妹中没有小脑囊,突出了诊断方面的挑战.

关键词:
大脑小部分的大脑小部分遗传学 遗传学 是一个磁共振成像 (MRI) 是一种磁共振成像技术.罕见疾病 罕见疾病视力障碍 视力障碍 视力障碍

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