Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference15 articles.
1. DK phocomelia phenotype (von Voss-Cherstvoy syndrome) caused by somatic mosaicism for del(13q)
2. Ring chromosome 13 in an infant with multiple congenital anomalies and penoscrotal transposition
3. Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q.
4. Preliminary definition of a “critical region” of chromosome 13 in q32: Report of 14 cases with 13q deletions and review of the literature
5. Retinal detachment in an infant with the ring chromosome 13 syndrome
Cited by 15 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Ring Chromosome 13;Human Ring Chromosomes;2024
2. Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?;Clinical Genetics;2013-01
3. Ring Autosomes: Some Unexpected Findings;Balkan Journal of Medical Genetics;2012-12-01
4. VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations;Molecular Syndromology;2012
5. Prenatal Diagnosis of a Case of Partial Monosomy^|^frasl;Monosomy 13 Mosaicism: 46,XX,r(13)(p11q33)^|^frasl;45,XX,-13 Suspected by Nuchal Fold Translucency Increasing;The Kurume Medical Journal;2011
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3