Proteus Syndrome

Known as: Elephant Man Disease, disease elephant mans, Proteus Syndrome [Disease/Finding] 
Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs… (More)
National Institutes of Health

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Highly Cited
2011
Highly Cited
2011
BACKGROUND The Proteus syndrome is characterized by the overgrowth of skin, connective tissue, brain, and other tissues. It has… (More)
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Review
2006
Review
2006
Proteus syndrome (PS) is a disorder of patchy or mosaic postnatal overgrowth of unknown etiology. The onset of overgrowth… (More)
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Highly Cited
2005
Highly Cited
2005
The genetic aetiology of autism remains elusive. Occasionally, individuals with Cowden syndrome (a cancer syndrome) and other… (More)
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2005
2005
  • Morris Cohen
  • American journal of medical genetics. Part C…
  • 2005
Proteus syndrome is a complex disorder consisting variably of disproportionate, asymmetric overgrowth of body parts; cerebriform… (More)
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Review
2004
Review
2004
Proteus syndrome is a sporadic disorder named for its highly variable manifestations. The disease causes tissue overgrowth in a… (More)
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Highly Cited
2003
Highly Cited
2003
Germline intragenic mutations in PTEN are associated with 80% of patients with Cowden syndrome (CS) and 60% of patients with… (More)
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2002
2002
Proteus syndrome (PS, OMIM 176920) is a hamartomatous disorder characterised by overgrowth of multiple tissues, connective tissue… (More)
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Highly Cited
2001
Highly Cited
2001
The molecular aetiology of Proteus syndrome (PS) remains elusive. Germline mutations in PTEN cause Cowden syndrome and Bannayan… (More)
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Highly Cited
2000
Highly Cited
2000
Cowden syndrome (CS, MIM 158350) is an autosomal dominant disorder with age related penetrance characterised by multiple… (More)
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Highly Cited
2000
Highly Cited
2000
Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumour syndromes… (More)
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