A Rare Novel Copy Number Variation of Xp22.33-p11.22 Duplication is Associated with Congenital Heart Defects
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference4 articles.
1. Use of prenatal chromosomal microarray: Prospective cohort study and systematic review and meta-analysis;Hillman;Ultrasound Obstet Gynecol,2013
2. Phenotype in novel Xp duplication;Salaria;Am J Med Genet A,2012
3. Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints;Newman;Am J Hum Genet,2015
4. Genetic mosaics and the germ line lineage;Samuels;Genes (Basel,2015
Cited by 4 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. Prenatally detected six duplications at Xp22.33-p11.22: a case report;BMC Pregnancy and Childbirth;2023-04-27
2. Familial Hydrocephalus and Dysgenesis of the Corpus Callosum Associated with Xp22.33 Duplication and Stenosis of the Aqueduct of Sylvius with X-Linked Recessive Inheritance Pattern;Gynecologic and Obstetric Investigation;2019
3. Uniparental disomy and prenatal phenotype;Medicine;2017-11
4. A CNV Catalogue;Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis;2017
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