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Article

Encephalocraniocutaneous lipomatosis.

Journal of medical genetics - 1 Nov 2009

Moog U

Abstract excerpt

BACKGROUND: Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder of unknown aetiology. It has repeatedly been discussed as a localised form of Proteus syndrome. In 2006, the first large series of patients was reported, and diagnostic criteria were proposed. AIMS: To better define the phenotypic spectrum and natural history of ECCL and to revise diagnostic criteria....

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Identifiers

PMID: 19574261
DOI: 10.1136/jmg.2009.066068

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