BIALLELIC MUTATIONS IN THE TRANSCRIPTIONAL REGULATOR MED17 CAUSE AN INTELLECTUAL DISABILITY SYNDROME WITH CEREBELLAR HYPOPLASIA AND POSSIBLE RISK FOR MYELODYSPLASIA

Hogue J. S.; Carlston C. M.; Doherty D.; Mao R.

首页> 外文期刊>American journal of medical genetics, Part A >BIALLELIC MUTATIONS IN THE TRANSCRIPTIONAL REGULATOR MED17 CAUSE AN INTELLECTUAL DISABILITY SYNDROME WITH CEREBELLAR HYPOPLASIA AND POSSIBLE RISK FOR MYELODYSPLASIA

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BIALLELIC MUTATIONS IN THE TRANSCRIPTIONAL REGULATOR MED17 CAUSE AN INTELLECTUAL DISABILITY SYNDROME WITH CEREBELLAR HYPOPLASIA AND POSSIBLE RISK FOR MYELODYSPLASIA

机译：转录调节剂MED17中的双裂突变导致具有小脑发育不全的智力残疾综合征，可能的髓细胞增强症患者

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来源
《American journal of medical genetics, Part A》 |2018年第6期|共1页
作者
Hogue J. S.; Carlston C. M.; Doherty D.; Mao R.;
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作者单位

Madigan Army Med Ctr Dept Pediat Tacoma WA 98431 USA;

ARUP Labs Salt Lake City UT USA;

Seattle Childrens Res Inst Seattle WA USA;

ARUP Labs Salt Lake City UT USA;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
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1. BIALLELIC MUTATIONS IN THE TRANSCRIPTIONAL REGULATOR MED17 CAUSE AN INTELLECTUAL DISABILITY SYNDROME WITH CEREBELLAR HYPOPLASIA AND POSSIBLE RISK FOR MYELODYSPLASIA [J] . Hogue J. S., Carlston C. M., Doherty D., American journal of medical genetics, Part A . 2018,第6期

机译：转录调节剂MED17中的双裂突变导致具有小脑发育不全的智力残疾综合征，可能的髓细胞增强症患者
2. A Novel Mutation in RPL10(Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia [J] . Zanni Ginevra, Kalscheuer Vera M., Friedrich Andreas, Human mutation . 2015,第12期

机译：RPL10（核糖体蛋白L10）中的新型突变导致X连锁的智力障碍，小脑发育不全和脊椎-phy骨发育不良
3. A Novel Synergistic Association of Variants in PTRH2 and KIF1A Relates to a Syndrome of Hereditary Axonopathy, Outer Hair Cell Dysfunction, Intellectual Disability, Pancreatic Lipomatosis, Diabetes, Cerebellar Atrophy, and Vertebral Artery Hypoplasia [J] . S. Charles Bronson, E. Suresh, S. Stephen Abraham Suresh Kumar, Cureus. . 2021,第2期

机译：PtrH2和KIF1A中变种的一种新型协同协会涉及遗传轴突病，外毛细胞功能障碍，智力残疾，胰腺脂肪瘤，糖尿病，小脑萎缩和椎动脉发育不全的综合症
4. In search of a novel autosomal recessive cause of non syndromic intellectual disability. [D] . Saleh, Shamsah H. 2015

机译：在寻找一种新的常染色体隐性非综合征性智力障碍的病因。
5. Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [O] . Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, -1

机译：对41例智障和小头畸形伴桥脑小脑发育不良（MICPCH）的CASK突变和其他遗传病因的综合调查
6. Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). [O] . Shin Hayashi, Daniela Tiaki Uehara, Kousuke Tanimoto, 2017

机译：41例智力残疾和小脑桥脑桥和小脑发育不全（mICpCH）患者的CasK突变和其他遗传病因的综合调查。

BIALLELIC MUTATIONS IN THE TRANSCRIPTIONAL REGULATOR MED17 CAUSE AN INTELLECTUAL DISABILITY SYNDROME WITH CEREBELLAR HYPOPLASIA AND POSSIBLE RISK FOR MYELODYSPLASIA

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