Microdeletion of 16p11.2 associated with endocardial fibroelastosis
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference18 articles.
1. Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2;Ballif;Nat Genet,2007
2. Fetal echocardiographic signs of congenital endocardial fibroelastosis;Claude Veille;Obstet Gynecol,1988
3. A novel microdeletion at 16p11.2 harbors candidate genes for aortic valve development, seizure disorder, and mild mental retardation;Ghebranious;Am J Med Genet Part A,2007
4. Inheritance of familial primary endocardial fibroelastosis;Hanukoglu;Clin Pediatr,1986
5. Microdeletion syndrome 16p11.2-p12.2: Clinical and molecular characterization;Hempel;Am J Med Genet Part A,2009
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1. Prenatal phenotypes and pregnancy outcomes of fetuses with 16p11.2 microdeletion/microduplication;BMC Pregnancy and Childbirth;2024-07-22
2. Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study;Molecular Cytogenetics;2024-01-04
3. Molecular cytogenetic characterization of 16p11.2 microdeletions with diverse prenatal phenotypes: Four cases report and literature review;Taiwanese Journal of Obstetrics and Gynecology;2022-05
4. Intrauterine phenotypic features associated with 16p11.2 recurrent microdeletions;Prenatal Diagnosis;2018-03-30
5. Phenotypic and Evolutionary Consequences of Deletion, Duplication, and Triplication at 16p11.2;SSRN Electronic Journal;2018
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