Discordant phenotypes in monozygotic twins with 16p11.2 microdeletions including the SH2B1 gene
Author:
Affiliation:
1. Fetal Medicine Centre, Department of Obstetrics and Gynecology; The First Affiliated Hospital of Sun Yat-Sen University; Guangzhou Guangdong China
Funder
National Natural Science Foundation of China
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference16 articles.
1. Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity;Bachmann-Gagescu;Genetics in Medicine,2010
2. The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome;Barge-Schaapveld;American Journal of Medical Genetics Part A,2011
3. Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals;Bijlsma;European Journal of Medical Genetics,2009
4. Impaired JAK2-induced activation of STAT3 in failing human myocytes;Cambi;Molecular Biosystems,2012
5. Human SH2B1 mutations are associated with maladaptive behaviors and obesity;Doche;The Journal of Clinical Investigation,2012
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4. 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
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