Condition: Popliteal pterygium syndrome


rs121434226 in IRF6 gene and Popliteal pterygium syndrome PMID 20803643 2010 Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.

PMID 22488974 2012 EEC syndrome-like phenotype in a patient with an IRF6 mutation.

PMID 14640121 2003 Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.

PMID 25548624 2014 Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.

PMID 12219090 2002 Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

PMID 18617879 2008 A familial case of popliteal pterygium syndrome.

PMID 19036739 2009 Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

PMID 20803643 2010 To further investigate the IRF6 mutation profile in PPS, we performed mutation analysis of patients from two unrelated Japanese families with PPS and identified mutations in IRF6: c.251G>T (R84L) and c.1271C>T (S424L).

PMID 19282774 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.

PMID 25784454 2015 Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.

PMID 23154523 2013 Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.

PMID 21045959 2010 IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

PMID 16160700 2005 Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.

PMID 27834299 2017 Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.

PMID 15472655 2004 Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome.

PMID 19449419 2009 Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?

PMID 20803643 2010 To further investigate the IRF6 mutation profile in PPS, we performed mutation analysis of patients from two unrelated Japanese families with PPS and identified mutations in IRF6: c.251G>T (R84L) and c.1271C>T (S424L).

PMID 23394314 2014 Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.