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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

机译：由于DNMT3A中的疾病变种进一步描绘了Tatton-Brown-Rahman综合征中的神经精神发现：七名新患者

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Phenotypic features of seven patients with variants in DNMT3A. a–g (Patients 1–7, respectively): Note facial dysmorphic features with macrocephaly, horizontal and thick eyebrows. Also, large hands with large fingers and abnormal feet. h and k: patient 1; i and l: patient 2; j and m: patient 5

机译：DNMT3A患者7例患者的表型特征。 A-G（分别为1-7患者）：注意面部缺陷特征，具有宏观角，水平和厚眉毛。而且，大双手与大手指和异常脚。 H和K：患者1;我和L：患者2; J和M：患者5

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1. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients [J] . European journal of human genetics: EJHG . 2020,第4期

机译：由于DNMT3A的疾病变异因疾病导致疾病变异：七名新患者，进一步描绘了Tatton-Brown-Rahman综合征的划分
2. A patient with a novel CNTNAP2 homozygous variant: further delineation of the CASPR2 deficiency syndrome and review of the literature [J] . Riccardi Florence, Urquhart Jill, McCullagh Gary, Clinical dysmorphology . 2019,第2期

机译：具有新型CNTNAP2纯合子变体的患者：进一步描绘Caspr2缺乏综合征和文献综述
3. Minimal clinical findings in a patient with 15qter microdeletion syndrome: delineation of the associated phenotype. [J] . Aleksandra Jezela-Stanek, Marzena Kucharczyk, Magdalena Pelc, American journal of medical genetics, Part A . 2012,第4期

机译：患有15qter微缺失综合征的患者的最低临床发现：相关表型的描述。
4. Paraneoplastic syndromes - what can be learned from the history, patient, or laboratory findings? [C] . T. Mark Neer Annual Meeting of the American Animal Hospital Association . 2002

机译：Paraneoplastic综合征 - 可以从历史，病人或实验室发现中学到什么？
5. QEEG and LORETA Findings in Patients With Multiple Chemical Sensitivity, Fibromyalgia, and Chronic Fatigue Syndrome [D] . Marquez, Leeanne. 2018

机译：Qeeg和Loreta在具有多种化学敏感性，纤维肌痛和慢性疲劳综合征的患者中的结果
6. First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118GC p.(Glu40Gln) [O] . Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo 2019

机译：由新的DNMT3A变体c.118G C p。（Glu40Gln）导致的首个发现患有Tatton-Brown-Rahman综合征的韩国家庭
7. Brittle cornea syndrome: Disease-causing mutations in ZNF469 and two novel variants identified in a patient followed for 26 years [O] . Pavlina Skalicka, Louise F. Porter, Kristyna Brejchova, 2020

机译：脆性角膜综合征：ZNF469中的疾病突变和患者中鉴定的两种新型变体，然后进行26岁

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

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