Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism

R. Rizzo, L. Pavone, G. Micali, F. Nigro, M. M. Cohen

Research output: Contribution to journalArticlepeer-review

45 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)653-655
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume47
Issue number5
DOIs
Publication statusPublished - 1993

ASJC Scopus Subject Areas

  • Genetics(clinical)

PubMed: MeSH publication types

  • Case Reports
  • Journal Article

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