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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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Highly Cited
2012
Highly Cited
2012
The autosomal-recessive form of popliteal pterygium syndrome, also known as Bartsocas-Papas syndrome, is a rare, but frequently… Expand
Highly Cited
2009
Highly Cited
2009
Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon… Expand
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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Highly Cited
2004
Highly Cited
2004
. an der Woude syndrome (VWS, OMIM #119300) is a dominantly inherited developmental disorder characterised by pits and/or sinuses… Expand
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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Highly Cited
1999
Highly Cited
1999
Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder, thought to occur with an incidence of approximately 1… Expand
Highly Cited
1990
Highly Cited
1990
The popliteal pterygium syndrome is a highly characteristic congenital malformation syndrome affecting the face, limbs, and… Expand
Highly Cited
1988
Highly Cited
1988
A syndrome of popliteal pterygium, cleft lip-palate, lower lip pits, eyelid adhesions, genito-urinary anomalies and digital… Expand
1978
1978
Two additional families with popliteal pterygium syndrome are presented. Using previously published pedigrees, as well as the… Expand
Highly Cited
1968
Highly Cited
1968
The name of popliteal pterygium syndrome is suggested for a well defined complex that consists of popliteal pterygium (usually… Expand