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Updated: Jan 15, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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小说 RNF113A 变异 潜在的 X 链接的三基缩症 假定的马赛克主义 在一个不受影响的母亲

Rachel Rabin1, Kevin T A Booth2,3, Shawn E Cowper4

  • 1Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, New York, USA.

American journal of medical genetics. Part A
|January 14, 2026
PubMed
概括

这项研究确定了两位患有X链接三极性缩症 (TTD) 的兄弟的新RNF113A基因变异. 这些发现扩大了已知的TTD临床范围,并强调了遗传咨询对家庭的重要性.

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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