Associated Papers
A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a Moroccan family.
Lanvin PL et al.
Clinical and Experimental Dermatology, 2023
First Report of a Known Pathogenic Variant in the FZD6 Gene, in an Iranian Family with Recessive Nail Dysplasia: A Case Report.
Mousavi-Asl Germeh Cheshmeh M et al.
Iranian Journal of Public Health, 2019
A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia.
Saygı C et al.
Bmc Medical Genetics, 2019
The role of GPCRs in bone diseases and dysfunctions.
Luo J et al.
Bone Research, 2019
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.
Ishida M et al.
Clinical Genetics, 2018
A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred.
Mohammadi-Asl J et al.
Journal of Dermatological Science, 2017
Isolated recessive nail dysplasia caused by FZD6 mutations: report of three families and review of the literature.
Kasparis C et al.
Clinical and Experimental Dermatology, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Polymorphisms in FZD3 and FZD6 genes and risk of neural tube defects in a northern Han Chinese population.
Shi OY et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2014
Planar cell polarity gene mutations contribute to the etiology of human neural tube defects in our population.
De Marco P et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2014
Disheveled regulates precoupling of heterotrimeric G proteins to Frizzled 6.
Kilander MB et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2014
Recessive mutations in the gene encoding frizzled 6 cause twenty nail dystrophy--expanding the differential diagnosis for pachyonychia congenita.
Wilson NJ et al.
Journal of Dermatological Science, 2013
A novel missense mutation in the gene FZD6 underlies autosomal recessive nail dysplasia.
Raza SI et al.
The British Journal of Dermatology, 2013
A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects.
Juriloff DM et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012
FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia.
Naz G et al.
The British Journal of Dermatology, 2012
FZD6 is a novel gene for human neural tube defects.
De Marco P et al.
Human Mutation, 2012
Mutations in Frizzled 6 cause isolated autosomal-recessive nail dysplasia.
Fröjmark AS et al.
American Journal of Human Genetics, 2011