Microdeletions of the 7q32.2 imprinted region are associated with Silver-Russell syndrome features
Author:
Affiliation:
1. Pediatric Service; San Pedro de Alcántara Hospital; Cáceres Spain
2. Center for Biomedical Research on Rare Diseases (CIBERER); Madrid Spain
3. Institute of Human Genetics; University Hospital; RWTH Aachen University; Aachen Germany
Funder
Bundesministerium für Bildung und Forschung (Network “Imprinting Diseases”)
European Cooperation in Science and Technology
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37492/fullpdf
Reference16 articles.
1. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome;Azzi;J Med Genet,2015
2. Gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome;Blagitko;Hum Mol Genet,1999
3. Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation;Eggerding;Am J Hum Genet,1994
4. Segmental maternal UPD (7q) in Silver-Russell syndrome;Eggermann;Clin Genet,2008
5. Heterogeneous growth patterns in s of chromosome 7p12.2 imbalances affecting GRB10;Eggermann;Am J Med Genet Part A,2012a
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1. Chromosome 7 Isodisomy in a Child with Silver-Russell Síndrome;OBM Genetics;2024-06-24
2. Clinical and Molecular Heterogeneity of Silver-Russell Syndrome and Therapeutic Challenges: A Systematic Review;Current Pediatric Reviews;2023-05
3. Parent-of-Origin inference for biobanks;Nature Communications;2022-11-05
4. A 79‐kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver‐Russell syndrome‐like phenotype;American Journal of Medical Genetics Part A;2022-05-20
5. Parent-of-origin effects in the UK Biobank;2021-11-06
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