Associated Papers
Exome sequencing of 1190 non-syndromic clubfoot cases reveals HOXD12 as a novel disease gene.
Charng WL et al.
Journal of Medical Genetics, 2024
38663984 (PubMed )
Supplement: jmg-2024-109846supp001.xlsx › Table_S3
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Experimental_by_OMIM
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study.
Bianco AM et al.
Genes, 2022
Genotype-phenotype correlation in clubfoot (talipes equinovarus).
Hordyjewska-Kowalczyk E et al.
Journal of Medical Genetics, 2022
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.
Morel G et al.
Human Mutation, 2020
Generation and characterization of a human iPSC line derived from congenital clubfoot amniotic fluid cells.
Wang J et al.
Stem Cell Research, 2020
Genetics of clubfoot; recent progress and future perspectives.
Basit S et al.
European Journal of Medical Genetics, 2018
Advances in the molecular genetics of non-syndromic polydactyly.
Deng H et al.
Expert Reviews in Molecular Medicine, 2015
Etiopathogenesis of equinovarus foot malformations.
Bacino CA et al.
European Journal of Medical Genetics, 2014
Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly.
Klopocki E et al.
European Journal of Human Genetics : Ejhg, 2012
Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.
Alvarado DM et al.
Human Molecular Genetics, 2011
Three sibs with microcephaly, clubfeet and agenesis of corpus callosum: a new genetic syndrome?
Shkalim V et al.
American Journal of Medical Genetics. Part A, 2011
Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.
Gurnett CA et al.
American Journal of Human Genetics, 2008
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