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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… 
National Institutes of Health

Papers overview

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Highly Cited
2009
Highly Cited
2009
Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon… 
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… 
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… 
Review
2003
Review
2003
We report a case of perioperative management of a neonate with popliteal pterygium syndrome complicated by interalveolar… 
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… 
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… 
Highly Cited
1990
Highly Cited
1990
The popliteal pterygium syndrome is a highly characteristic congenital malformation syndrome affecting the face, limbs, and… 
Review
1981
Review
1981
1978
1978
Two additional families with popliteal pterygium syndrome are presented. Using previously published pedigrees, as well as the… 
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…