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PedAM

Pediatric Disease Annotations & Medicines




Disease lipodystrophy
Phenotype C0021843|intestinal obstruction
Sentences 1
PubMedID- 20300641 The presence of generalized lipodystrophy in combination with muscle rippling/mounding, intestinal obstruction and the absence of acanthosis nigricans should let geneticists think of ptrf-cavin deficiency.

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