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Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism.

Abstract
We report on a patient with manifestations of encephalocraniocutaneous lipomatosis and Proteus syndrome. Further comparison with other reported patients demonstrates a continuum, not 2 distinct entities that share common manifestations. This continuum supports the concept of somatic mosaicism.
AuthorsR Rizzo, L Pavone, G Micali, F Nigro, M M Cohen Jr
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 47 Issue 5 Pg. 653-5 (Oct 01 1993) ISSN: 0148-7299 [Print] United States
PMID8266992 (Publication Type: Case Reports, Journal Article)
Topics
  • Adolescent
  • Brain Diseases (complications, genetics, pathology)
  • Humans
  • Lipomatosis (complications, genetics, pathology)
  • Male
  • Mosaicism
  • Phenotype
  • Proteus Syndrome (complications, genetics, pathology)
  • Skin Diseases (complications, genetics, pathology)

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