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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 lip and palate are affected, or in the absence of other anomalies. Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) are autosomal dominant disorders chara...

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Dettagli Bibliografici
Autori principali: Little, Hayley J., Rorick, Nicholas K., Su, Ling-I, Baldock, Clair, Malhotra, Saimon, Jowitt, Tom, Gakhar, Lokesh, Subramanian, Ramaswamy, Schutte, Brian C., Dixon, Michael J., Shore, Paul
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2009
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2638798/
https://ncbi.nlm.nih.gov/pubmed/19036739
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddn381
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