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Popliteal pterygium syndrome

Known as: Cleft Lip-Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies, Faciogenitopopliteal Syndrome, CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES 
A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip… Expand
National Institutes of Health

Papers overview

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2012
2012
The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently… Expand
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2009
2009
Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon… Expand
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2009
2009
Cleft lip and cleft palate (CLP) are common disorders that occur either as part of a syndrome, where structures other than the… Expand
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Highly Cited
2006
Highly Cited
2006
The epidermis is a highly organized structure, the integrity of which is central to the protection of an organism. Development… Expand
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2004
2004
. an der Woude syndrome (VWS, OMIM #119300) is a dominantly inherited developmental disorder characterised by pits and/or sinuses… Expand
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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… Expand
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1999
1999
Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder, thought to occur with an incidence of approximately 1… Expand
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1990
1990
The popliteal pterygium syndrome is a highly characteristic congenital malformation syndrome affecting the face, limbs, and… Expand
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1978
1978
Two additional families with popliteal pterygium syndrome are presented. Using previously published pedigrees, as well as the… Expand
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1968
1968
The name of popliteal pterygium syndrome is suggested for a well defined complex that consists of popliteal pterygium (usually… Expand
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