首页> 美国卫生研究院文献>Clinical Case Reports >Interstitial 20p13 microdeletion including PRNP and adjacent genes in a fetus with congenital abnormalities—First case report

【2h】

Interstitial 20p13 microdeletion including PRNP and adjacent genes in a fetus with congenital abnormalities—First case report

机译：间质20p13微缺失包括PRNP和胎儿的相邻基因具有先天性异常 - 第一个案例报告

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。

页面导航

摘要
著录项
相似文献
相关主题

摘要

We present a prenatal case with congenital anomalies that revealed a 759 kb microdeletion at 20p13 possibly implicating PRNP and adjacent genes.

机译：我们提出了一种产前案例，先天性异常，在20P13上揭示了759 kB微缺失，可能暗示PRNP和相邻基因。

著录项

期刊名称 Clinical Case Reports
作者
Pelin Onur; Mary Shaver; Mohammed Anwaruddin Iqbal;
展开▼
作者单位

展开▼
年(卷),期 2021(9),5
年度 2021
页码 e04082
总页数 4
原文格式 PDF
正文语种
中图分类
关键词

机译：异常超声;CMA;产前;

相似文献

外文文献
中文文献
专利

1. First report of a de novo 18q11.2 microdeletion including GATA6 associated with complex congenital heart disease and renal abnormalities. [J] . Peter H Bui, Naghmeh Dorrani, Derek Wong, American journal of medical genetics, Part A . 2013,第7期

机译：首次报道包括与复杂先天性心脏病和肾脏异常相关的GATA6的18q11.2微缺失。
2. A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect [J] . Beata Aleksiūnien?, Egle Preiksaitiene, Au?ra Morkūnien?, Cytogenetic and genome research . 2018,第1期

机译：识别智者残疾女孩中的德诺伊1季度1Q22Q23231.1患有智力障碍的女孩和包括先天性心脏缺陷的多个先天性异常
3. Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities [J] . Themistoklis Dagklis, Elena Papageorgiou, Elisavet Siomou, Molecular cytogenetics . 2016,第1期

机译：颌骨异常胎儿胎儿胎儿1P34.3间质微缺失的产前诊断
4. Performance analysis of grid connected induction generators driven by hydro/wind turbines including grid abnormalities [C] . Murthy, S.S., Jha, Energy Conversion Engineering Conference, 1989. IECEC-89., Proceedings of the 24th Intersociety . 1989

机译：水电/风力发电机驱动的并网感应发电机的性能分析（包括电网异常）
5. Prenatal diagnosis of 1p34.3 interstitial microdeletion by aCGH in a fetus with jaw bone abnormalities [O] . Themistoklis Dagklis, Elena Papageorgiou, Elisavet Siomou, 2015

机译：aCGH对患有颌骨异常的胎儿的产前诊断1p34.3间质微缺失
6. Interstitial 20p13 microdeletion including PRNP and adjacent genes in a fetus with congenital abnormalities—First case report [O] . Pelin Onur, Mary Shaver, Mohammed Anwaruddin Iqbal 2021

机译：间质20p13微缺失，包括PRNP和胎儿的相邻基因，具有先天性异常 - 第一个案例报告

Interstitial 20p13 microdeletion including PRNP and adjacent genes in a fetus with congenital abnormalities—First case report

摘要

著录项

相似文献

相关主题

期刊订阅