Severe cardiac phenotype of Berardinelli-Seip congenital...

European Journal of Medical Genetics 2009 Vol. 52; Iss. 1

Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation

B. Friguls, W. Coroleu, R. del Alcazar, P. Hilbert, L. Van Maldergem, G. Pintos-Morell
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Volume:
52
Year:
2009
Language:
english
Pages:
17
DOI:
10.1016/j.ejmg.2008.10.006
File:
PDF, 234 KB
english, 2009
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