IGF2/H19 hypomethylation in Silver–Russell syndrome and isolated hemihypoplasia

Author:

Zeschnigk Michael,Albrecht Beate,Buiting Karin,Kanber Deniz,Eggermann Thomas,Binder Gerhard,Gromoll Jörg,Prott Eva-Christina,Seland Saskia,Horsthemke Bernhard

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Silver HK, Kiyasu W, George J, Deamer WC : Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 1953; 12: 368–376.

2. Russell A : A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (5 examples). Proc R Soc Med 1954; 47: 1040–1044.

3. Duncan PA, Hall JG, Shapiro LR, Vibert BK : Three-generation dominant transmission of the Silver–Russell syndrome. Am J Med Genet 1990; 35: 245–250.

4. Hannula K, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman M : Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver–Russell phenotype? J Med Genet 2001; 38: 273–278.

5. Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC : The spectrum of Silver–Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999; 36: 837–842.

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