Encephalocraniocutaneous lipomatosis, Proteus syndrome, and somatic mosaicism
- 1 October 1993
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 47 (5) , 653-655
- https://doi.org/10.1002/ajmg.1320470515
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.Keywords
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