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Further heterogeneity in Silver-Russell syndrome: PLAG1 deletion in association with a complex chromosomal rearrangement.
Brereton RE, Nickerson SL, Woodward KJ, Edwards T, Sivamoorthy S, Ramos Vasques Walters F, Chabros V, Marchin V, Grumball T, Kennedy D, Uzaraga J, Peverall J, Arscott G, Beilby J, Choong CS, Townshend S, Azmanov DN. Brereton RE, et al. Among authors: chabros v. Am J Med Genet A. 2021 Oct;185(10):3136-3145. doi: 10.1002/ajmg.a.62391. Epub 2021 Jul 5. Am J Med Genet A. 2021. PMID: 34223693
Another case of completely discordant findings at CVS.
Mulcahy MT, Murch AR, Rose A, Chabros V. Mulcahy MT, et al. Among authors: chabros v. Prenat Diagn. 1989 Mar;9(3):221. doi: 10.1002/pd.1970090313. Prenat Diagn. 1989. PMID: 2710747 No abstract available.