Multiple pterygium syndrome

Known as: pterygium multiple syndrome, MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE, MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT 
A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities… (More)
National Institutes of Health

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Highly Cited
2014
Highly Cited
2014
and people Sandra Dı́az, Sebsebe Demissew, Julia Carabias, Carlos Joly, Mark Lonsdale, Neville Ash, Anne Larigauderie, Jay Ram… (More)
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2012
2012
BACKGROUND Germline mutations in the CHRNG gene that encodes the γ subunit of the embryonal acetylcholine receptor may cause the… (More)
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2008
2008
Multiple pterygium syndromes (MPS) comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia… (More)
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Highly Cited
2002
Highly Cited
2002
Interferon regulatory factor 6 (IRF6) belongs to a family of nine transcription factors that share a highly conserved helix–turn… (More)
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Highly Cited
1998
Highly Cited
1998
AIM Treatment of recurrent pterygium associated with symblepharon requires both suppression of fibrosis and reconstruction of… (More)
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1997
1997
Severely involved female child with Multiple Pterygium Syndrome (Escobar) is described. She had the typical findings of the… (More)
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1992
1992
Multiple pterygium syndrome is a rare, inherited disorder manifested by growth retardation, facial or genital anomalies, and… (More)
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1988
1988
Three sibs and their mother with features of a multiple pterygium syndrome are reported. Inheritance in this family is consistent… (More)
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1987
1987
The clinical features of the multiple pterygium syndrome are multiple congenital joint contractures, multiple skin webs… (More)
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1978
1978
After treating a 12-year-old patient with multiple pterygium syndrome, we ascertained the minimal diagnostic criteria of pterygia… (More)
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