Beckwith–Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

Author:

Romanelli Valeria,Meneses Heloisa N M,Fernández Luis,Martínez-Glez Victor,Gracia-Bouthelier Ricardo,F Fraga Mario,Guillén Encarna,Nevado Julián,Gean Esther,Martorell Loreto,Marfil Victoria Esteban,García-Miñaur Sixto,Lapunzina Pablo

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference38 articles.

1. Beckwith JB : Extreme cytomegaly of the adrenal fetal cortex, omphalocele, hyperplasia of kidneys and pancreas, and Leydig-cell hyperplasia: another syndrome? Western Soc Pediatr Res (Abstr) (Los Angeles) 1963; (20).

2. Elliott M, Maher ER : Beckwith-Wiedemann syndrome. J Med Genet 1994; 31: 560–564.

3. Martinez RMY : Clinical features in the Wiedemann-Beckwith syndrome. Clin Genet 1996; 50: 272–274.

4. Wiedemann H-R : Familal malformation complex with umbilical hernia and macroglossia: a ‘new syndrome’? J Genet Hum 1964; 13: 223–232.

5. Maher ER, Reik W : Beckwith-Wiedemann syndrome: imprinting in clusters revisited. J Clin Invest 2000; 105: 247–252.

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