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Updated: Jul 18, 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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罕见剂量异常 - 副本数量变异 横跨Shox基因

I Gherlan1,2, E Braha3, D C Manole1

  • 1Pediatric Endocrinology Department, "C.I. Parhon" National Institute of Endocrinology Bucharest, Romania.

Acta endocrinologica (Bucharest, Romania : 2005)
|August 21, 2023
PubMed
概括

下游SHOX增强剂中的遗传重复与特异性矮身 (ISS) 有关. 罗马尼亚患者的这些发现突出了矮身的潜在原因,需要进一步研究确切的临床机制.

关键词:
在CNE中,CNE是CNE.这是一个ShoxShox.删除删除删除删除复制复制复制复制复制复制异常发病的矮个体的人.这是一个监管要素.

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