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Updated: Jun 30, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

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新型双性SASS6变异与初级小头症和胎儿生长限制相关

Xiangtian Kong1, Jian Xu2, Honggang Yin3

  • 1Department of Medical Genetics and Prenatal Diagnosis, Affiliated Maternity and Child Health Care Hospital of Nantong University, Nantong, China.

American journal of medical genetics. Part A
|March 19, 2024
PubMed
概括

在SASS6基因的遗传变异导致初级小头症,一个小头尺寸的条件. 这项研究确定了与小头症和胎儿生长限制 (FGR) 相关的新SASS6变异.

关键词:
在SAS6S6中,我们可以看到SAS6S.自体逆行性自体逆行性.胎儿生长限制 限制胎儿生长主要的微头症是小头症.

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