Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the n-terminal plakin domain of desmoplakin

HIGHLIGHTS

• who: Maeve A. McAleer MB MRCP from the Children's Hospital Crumlin, DublinChildren's Hospital Crumlin, Dublin have published the Article: Severe dermatitis, multiple allergies, and metabolic wasting syndrome caused by a novel mutation in the N-terminal plakin domain of desmoplakin, in the Journal: (JOURNAL) of June/12,/2015
• what: The authors report the first case of SAM syndrome (MIM #615508) attributed to a missense mutation affecting the plakin domain of the desmoplakin gene (DSP).
• how: Only nonpathogenic single nucleotide polymorphisms (SNPs) that have been found in healthy populations by the 1000 . . .
  

   

  

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