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Article

Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.

Clinical dysmorphology - 1 Oct 2009

Houweling Arjan C, Gille Johan J P, Baart Jacques A, van Hagen Johanna M, Lachmeijer Augusta M

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 19623037
DOI: 10.1097/MCD.0b013e32832d4a87

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Related research

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Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.PMID 19623037Read ↗

Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.Semantic proximity Read ↗

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.Semantic proximity Read ↗

Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.Semantic proximity Read ↗

Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.Semantic proximity Read ↗

Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndromeSemantic proximity Read ↗

Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.Semantic proximity Read ↗

Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6Semantic proximity Read ↗

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.Semantic proximity Read ↗

A familial case of popliteal pterygium syndrome.Semantic proximity Read ↗

Novel mutations in the IRF6 gene for Van der Woude syndrome.Semantic proximity Read ↗

Novel Mutations in the IRF6 Gene on the Background of Known Polymorphisms in Polish Patients With Orofacial Clefting.Semantic proximity Read ↗

Deep Phenotyping and Molecular Elucidation of a New Syndrome: Ectodermal Dysplasia Caused by IRF6 Variants.Semantic proximity Read ↗

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