Article
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
European journal of human genetics : EJHG - 1 Apr 2011
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
Abstract excerpt
Beckwith-Wiedemann syndrome (BWS) is a phenotypically and genotypically heterogeneous overgrowth syndrome characterized by somatic overgrowth, macroglossia and abdominal wall defects. Other usual findings are hemihyperplasia, embryonal tumours, adrenocortical cytomegaly, ear anomalies, visceromegaly, renal abnormalities, neonatal hypoglycaemia, cleft palate, polydactyly and a positive family history. BWS is a...
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