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- W2140171623 abstract "The panniculitides are a group of heterogeneous inflammatory diseases involving the subcutaneous fat, the pathogenesis of which is poorly understood. Here, we report on a female infant with Prader-Willi syndrome who developed a systemic inflammatory disorder in the neonatal period demonstrating recurrent panniculitis as a prominent feature. This is the second report of an association between Prader-Willi syndrome and panniculitis. Such an association might be explained by the unmasking of a recessive allele as a consequence of hemizygosity, in the case of a 15q11 deletion, or homozygosity, in the case of maternal isodisomy." @default.
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- W2140171623 date "2011-11-03" @default.
- W2140171623 modified "2023-09-26" @default.
- W2140171623 title "Severe neonatal-onset panniculitis in a female infant with Prader-Willi syndrome" @default.
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- W2140171623 doi "https://doi.org/10.1002/ajmg.a.34318" @default.
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