Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease

Conrad Maire A.; Dawany Noor; Sullivan Kathleen E.; Devoto Marcella; Kelsen Judith R.

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Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease

机译：与免疫缺陷相关的新型ZBTB24突变，Centromere不稳定性和面部异常型患者在患者中鉴定出非常早期发作炎症肠道疾病的患者

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Background: Very early onset inflammatory bowel disease, diagnosed in children = 5 years old, can be the initial presentation of some primary immunodeficiencies.

机译：背景：非常早期发作炎症肠病，诊断为儿童＆ = 5岁，可以是一些主要免疫缩小的初步呈现。

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来源
《Inflammatory bowel diseases》 |2017年第12期|共4页
作者
Conrad Maire A.; Dawany Noor; Sullivan Kathleen E.; Devoto Marcella; Kelsen Judith R.;
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作者单位

Childrens Hosp Philadelphia Dept Pediat Div Gastroenterol Hepatol &

Nutr Wood Bldg Room 3393;

Childrens Hosp Philadelphia Dept Biomed Hlth Informat Philadelphia PA 19104 USA;

Univ Penn Dept Pediat Perelman Sch Med Philadelphia PA 19104 USA;

Univ Penn Dept Pediat Perelman Sch Med Philadelphia PA 19104 USA;

Childrens Hosp Philadelphia Dept Pediat Div Gastroenterol Hepatol &

Nutr Wood Bldg Room 3393;

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原文格式 PDF
正文语种 eng
中图分类消化系及腹部疾病;
关键词
immunodeficiency; centromere instability; facial anomalies syndrome; type 2; very early onset inflammatory bowel disease; gene mutation;

机译：免疫缺陷;Centromere不稳定性;面部异常综合征;2型;非常早期发作炎症肠病;基因突变;

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专利

1. Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease [J] . Conrad Maire A., Dawany Noor, Sullivan Kathleen E., Inflammatory bowel diseases . 2017,第12期

机译：与免疫缺陷相关的新型ZBTB24突变，Centromere不稳定性和面部异常型患者在患者中鉴定出非常早期发作炎症肠道疾病的患者
2. Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2. [J] . de Greef JC, Wang J, Balog J, The American Journal of Human Genetics . 2011,第6期

机译：ZBTB24中的突变与免疫缺陷，着丝粒不稳定性和2型面部异常综合征有关。
3. Three Types of Immunodeficiency, Centromeric Instability, and Facial Anomalies (ICF) Syndrome Identified by Whole-Exome Sequencing in Saudi Hypogammaglobulinemia Patients: Clinical, Molecular, and Cytogenetic Features [J] . Alghamdi Hamza A., Tashkandi Suha A., Alidrissi Eman M., Journal of Clinical Immunology . 2018,第8期

机译：在沙特神经糖尿病患者中全外膜测序鉴定的三种免疫缺陷，焦化不稳定性和面部异常（ICF）综合征：临床，分子和细胞遗传学特征
4. State-of-the Art Lecture: Irritable bowel syndrome: the new inflammatory bowel disease? [C] . R. C. SPILLE Falk Symposium . 2006

机译：最先进的讲座：肠易激综合征：新的炎症性肠病？
5. Genetic investigation of inflammatory bowel disease and post-infectious irritable bowel syndrome: the contribution of innate immunity candidate risk variants. [D] . Villani, Alexandra-Chloe. 2009

机译：炎症性肠病和感染后肠易激综合症的遗传调查：先天性免疫候选风险变量的贡献。
6. Novel ZBTB24 mutation associated with immunodeficiency centromere instability and facial anomalies type 2 syndrome identified in a patient with very early onset inflammatory bowel disease [O] . Máire A. Conrad, Noor Dawany, Kathleen E. Sullivan, -1

机译：新型ZBTB24突变与免疫缺陷着丝粒不稳定和面部异常2型综合征相关在非常早期发作的炎症性肠病患者中被发现
7. Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst [O] . Cerbone M, Wang J, Van der Maarel SM, 2012

机译：免疫缺陷，着丝粒不稳定，面部异常（ICF）综合征，两个ZBTB24突变，呈现大脑囊肿

Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease

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