Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome
Author:
Affiliation:
1. Genetic Medicine; University Hospitals of Geneva; Geneva Switzerland
2. Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology; Innsbruck Medical University; Innsbruck Austria
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference54 articles.
1. 12q14 microdeletion associated with HMGA2 gene disruption and growth restriction;Alyaqoub;Am J Med Genet Part A,2012
2. Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes;Bartholdi;J Med Genet,2009
3. Clinical significance of copy number variations in the 11p15.5 imprinting control regions: New cases and review of the literature;Begemann;J Med Genet,2012
4. Russell-Silver syndrome and XXY syndrome;Bianchi;Pediatrics,1983
5. Report of a mother and daughter with the 12q14 microdeletion syndrome;Bibb;Am J Med Genet Part A,2012
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2. Clinical characterization of PLAG1- related Silver-Russell syndrome:A clinical report;European Journal of Medical Genetics;2023-10
3. Silver–Russell syndrome caused by trisomy 11p15.5 due to a derivative X chromosome from a de novo t(X;11) in a Mexican female patient;Clinical Dysmorphology;2021-11-08
4. Molecular characterization in chromosome 11p15.5 related imprinting disorders Beckwith–Wiedemann and Silver–Russell syndromes;Journal of Genetic Medicine;2021-06-30
5. Overgrowth-associated partial trisomy 15q24.3-qter and mosaic 11p15.5 duplication involving Silver-Russell region in a patient with lateralized asymmetry and developmental delay;Clinical Dysmorphology;2021-06-14
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