A ca of Ververi〣rady syndrome due to QRICH1 lo

更新时间:2023-06-22 05:53:03 阅读: 评论:0

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可以挣钱的手游王安石是什么家A ca of Ververi〣rady syndrome due to QRICH1
loss of function and the literature review 期刊名称: American Journal of Medical Genetics Part A
作者: Yoav Baruch,Shirley Horn㏒aban,Yoram Plotsky,Dani Bercovich,Ruth
Gershoni〣aruch繁花血景
年份: 2021年
关键词: chondrodysplasia;developmental delay;impaired
郑板桥的画
growth;QRICH1;Ververi‐Brady syndrome
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摘要:Ververi〣rady syndrome (VBS), first reported in 2018, is characterized by intellectual disability, speech delay, and mild dysmorphic facial features. VBS has been linked to de novo loss﹐f‐function variants in the glutamine‐rich protein 1 (QRICH1) on chromosome 3p21 and was reported until lately in only five individuals. Four additional cas have just been described substantiating the notion that child
ren with VBS are mildly dysmorphic, mildly to moderately intellectually disabled, have linear growth shortage, are picky eaters, and have notable attention and social behavioral deficits. We describe a new patient and review the clinical and genetic information, on all previously reported VBS cas. The child here reported is noted for maladaptive behavior, nsory hypernsitivity, and slow linear growth. He is mainly hyperactive,...
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