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

✍ Scribed by B. Friguls; W. Coroleu; R. del Alcazar; P. Hilbert; L. Van Maldergem; G. Pintos-Morell

• Book ID: 116433141
• Publisher: Elsevier Science
• Year: 2009
• Tongue: English
• Weight: 234 KB
• Volume: 52
• Category: Article
• ISSN: 1769-7212
• DOI: 10.1016/j.ejmg.2008.10.006