A paternally inherited 1.4 kb deletion of the 11p15.5 imprinting center 2 is associated with a mild familial Silver–Russell syndrome phenotype
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-020-00753-1.pdf
Reference25 articles.
1. Ishida M, Moore GE. The role of imprinted genes in humans. Mol Asp Med. 2013;34:826–40.
2. Monk D, Mackay DJG, Eggermann T, Maher ER, Riccio A. Genomic imprinting disorders: lessons on how genome, epigenome and environment interact. Nat Rev Genet. 2019;20:235–48.
3. Boonen SE, Freschi A, Christensen R, Valente FM, Lildballe DL, Perone L, et al. Two maternal duplications involving the CDKN1C gene are associated with contrasting growth phenotypes. Clin Epigenetics. 2016;8:69.
4. Wakeling EL, Brioude F, Lokulo-Sodipe O, O’Connell SM, Salem J, Bliek J, et al. Diagnosis and management of Silver–Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017;13:105–24.
5. Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I, et al. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet. 2015;52:446–53.
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1. Imprinted gene alterations in the kidneys of growth restricted offspring may be mediated by a long non-coding RNA;Epigenetics;2023-12-21
2. CDKN1Chyperexpression in two patients with severe growth failure and microdeletions affecting the paternally inheritedKCNQ1OT1:TSS-DMR;Journal of Medical Genetics;2022-07-29
3. A 132 bp deletion affecting theKCNQ1OT1gene associated with Silver-Russell syndrome clinical phenotype;Journal of Medical Genetics;2022-06-30
4. Mosaic Segmental and Whole-Chromosome Upd(11)mat in Silver-Russell Syndrome;Genes;2021-04-16
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