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Article

Mutations in IRF6 do not cause Bartsocas-Papas syndrome in a family with two affected sibs.

American journal of medical genetics. Part A - 1 Aug 2004

Shanske A L, Hoper S A, Krahn K, Schutte B C

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15264293
DOI: 10.1002/ajmg.a.30096

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Click a neighbor to travelStep 1 · 12 closest

Mutations in IRF6 do not cause Bartsocas-Papas syndrome in a family with two affected sibs.PMID 15264293Read ↗

EEC syndrome-like phenotype in a patient with an IRF6 mutation.Semantic proximity Read ↗

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

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

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

IRF2BPL gene variants: One new case.Semantic proximity Read ↗

Novel de novo missense mutation in the interferon regulatory factor 6 gene in an Italian infant with IRF6-related disorder.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 ↗

Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.Semantic proximity Read ↗

Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance.Semantic proximity Read ↗

Identification of novel PAX6 mutations in two families with bilateral aniridia. Mutations in brief no. 167. Online.Semantic proximity Read ↗

IRF6 and AP2A Interaction Regulates Epidermal Development.Semantic proximity Read ↗

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