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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

Related topics

Related topics

16 relations
Autosomal dominant inheritanceBifid scrotumCleft Palate-Lateral Synechia SyndromeCongenital clubfoot

Broader (7)

Cleft LipCleft PalateEye AbnormalitiesFingers

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases
Purpose:Mutations in the transcription factor IRF6 cause allelic autosomal dominant clefting syndromes, Van der Woude syndrome… 
Highly Cited
2009
Highly Cited
2009
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome
Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon… 
Highly Cited
2008
Highly Cited
2008
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6
Cleft lip and cleft palate (CLP) are common disorders that occur either as part of a syndrome, where structures other than the… 
Highly Cited
2006
Highly Cited
2006
Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch
The epidermis is a highly organized structure, the integrity of which is central to the protection of an organism. Development… 
Review
2003
Review
2003
Popliteal pterygium syndrome with syngnathia
We report a case of perioperative management of a neonate with popliteal pterygium syndrome complicated by interalveolar… 
Highly Cited
1999
Highly Cited
1999
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32
Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder, thought to occur with an incidence of approximately 1… 
Review
1990
Review
1990
Popliteal pterygium syndrome: an orthopaedic perspective.
Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder consisting of popliteal webs and craniofacial… 
Review
1981
Review
1981
Lower lip sinuses: I. Epidemiology, microforms and transverse sulci.
1973
1973
Phenotypic variation in the popliteal pterygium syndrome
At least 47 cases of the popliteal pterygium syndrome have been reported in the literature. Of these, 27 affected individuals… 
Highly Cited
1968
Highly Cited
1968
Popliteal pterygium syndrome . A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies.
The name of popliteal pterygium syndrome is suggested for a well defined complex that consists of popliteal pterygium (usually… 
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