首页> 美国卫生研究院文献>Frontiers in Genetics >Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis

【2h】

Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis

机译：BRPF1基因杂合状态的新型错义变异导致智力发育障碍畸形相和眼睑下垂。

代理获取

本网站仅为用户提供外文OA文献查询和代理获取服务，本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文，但由于OA文献来源多样且变更频繁，仍可能出现获取不到、文献不完整或与标题不符等情况，如果获取不到我们将提供退款服务。请知悉。

获取外文期刊封面目录资料

页面导航

著录项
引文网络
相似文献
相关主题

著录项

期刊名称 Frontiers in Genetics
作者
Muhammad Imran Naseer; Angham Abdulrahman Abdulkareem; Francisco J. Guzmán-Vega; Stefan T. Arold; Peter Natesan Pushparaj; Adeel G. Chaudhary; Mohammad H. AlQahtani;
展开▼
作者单位

展开▼
年(卷),期 2020(11),-1
年度 2020
页码 -1
总页数 6
原文格式 PDF
正文语种
中图分类遗传学;
关键词
dysmorphic facies; intellectual developmental disorder; ptosis; Saudi family;

机译：畸形相智力发育障碍上睑下垂沙特家族;

相似文献

外文文献
中文文献
专利

1. Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly [J] . Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Mohammed M. Jan, Saudi Journal of Biological Sciences . 2020,第11期

机译：下一代测序揭示了PUS7中的新型纯合架和AASS基因的接头受体变体，导致智力残疾，发育延迟，疑风特征和微术
2. DE NOVO HETEROZYGOUS MISSENSE MUTATIONS IN DDB1 CAUSE A NOVEL DISORDER OF TRANSCRIPTIONAL REGULATION MANIFESTING AS HYPOTONIA, INTELLECTUAL DISABILITY AND DYSMORPHIC FEATURES [J] . White Susan M., Bhoj Elizabeth, Boycott Kym, American journal of medical genetics, Part A . 2018,第6期

机译：DDB1中的Novo杂合的畸形突变导致新的转录调节障碍，表现为低呼吸道，智力残疾和疑似特征
3. De novo De novo missense variants in MEIS2 MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features [J] . Douglas Ganka, Cho Megan T., Telegrafi Aida, American journal of medical genetics, Part A . 2018,第9期

机译：梅斯2梅斯2的De Novo de Novo畸形变种术术重息心脏和口感异常，发育延迟，智力残疾和疑难解情特征
4. Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta [C] . D. A. Petukhova, E. E. Gurinova, A. L. Sukhomyasova, International Symposium on Bioinformatics Research and Applications . 2020

机译：通过成骨不全症类型鉴定导致骨骼脆弱的NBAS中的新型复合杂合变体
5. Autosomal Recessive Variants in Intellectual Disability and Autism Spectrum Disorder [D] . Harripaul, Ricardo Simeon. 2021

机译：智能疾病和自闭症谱系血型术中的常染色体隐性变体
6. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation [O] . Chris Balak, Marianne Benard, Elise Schaefer, 2019

机译：RNA解旋酶DDX6中的罕见De Novo错义变体导致智力残疾和畸形特征并导致P体缺陷和RNA失调
7. Inherited cases of CNOT3 ‐associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies [O] . Robert Meyer, Matthias Begemann, Stephanie Demuth, 2020

机译：CNOT3 -Asociated智力发育障碍的遗传案与语音延迟，自闭症和虚张声势相

Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis

著录项

引文网络

相似文献

相关主题

期刊订阅