一个婴儿的病例,在NF1和GABBR1中存在三种可能致病的de novo missense变异

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Kazuki Watanabe1, Kazuo Kubota2,3, Mitsuko Nakashima4

  • 1Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Human genome variation
|November 22, 2023
PubMed
概括

这项研究详细介绍了1型神经纤维素瘤病 (NF1) 与婴儿的独特病例,确定了三种新的新型变体. 这些遗传发现为NF1表型和GABR1相关疾病提供了新的见解.

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