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.
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Authors | R Rizzo, L Pavone, G Micali, F Nigro, M M Cohen Jr |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 47
Issue 5
Pg. 653-5
(Oct 01 1993)
ISSN: 0148-7299 [Print] United States |
PMID | 8266992
(Publication Type: Case Reports, Journal Article)
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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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