Johanson–Blizzard syndrome caused by identical UBR1 mutations in two unrelated girls, one with a cardiomyopathy
Mariet Elting, Ariana Kariminejad, Marie-Louise de Sonnaville, Jaap Ottenkamp, Susanne Bauhuber, Bita Bozorgmehr, Martin Zenker, Jan M. CobbenVolume:
146A
Year:
2008
Language:
english
Pages:
4
DOI:
10.1002/ajmg.a.32566
File:
PDF, 128 KB
english, 2008