Origins of the elephant man: Mosaic somatic mutations cause Proteus syndrome

Clinical Genetics

Volumn 81, Issue 2, 2012, Pages 123-124

  de Souza, Rag ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

AKT1 KINASE; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG;

BODY GROWTH; CELL DEATH; CELL PROLIFERATION; ELEPHANT; FAMILY; GENETIC DISORDER; GROWTH DISORDER; HUMAN; MOSAICISM; MULTIPLE CANCER; NONHUMAN; NOTE; PREGNANT WOMAN; PRIORITY JOURNAL; RARE DISEASE; SKIN COLOR; SOLAMEN SYNDROME; SOMATIC MUTATION;

EID: 84855932928     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2011.01807.x     Document Type: Note

References (2)

1. Howell M, Ford P. The true history of the elephant man, 3rd edn., London: Penguin Books, 1992.
2. Biesecker L. Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. EJHG 2006: 15 (7): 767-773, doi:10.1038/sj.ejhg.5201823.