Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation (Q34890648)
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English | Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation |
scientific article |
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Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation (English)
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B Friguls
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W Coroleu
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R del Alcazar
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P Hilbert
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L Van Maldergem
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G Pintos-Morell
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12 November 2008
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52
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1
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14-16
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