title: Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22.
authors.forename: H
authors.initials: H
authors.lastname: Dollfus
authors.forename: G
authors.initials: G
authors.lastname: Kumaramanickavel
authors.forename: P
authors.initials: P
authors.lastname: Biswas
authors.forename: C
authors.initials: C
authors.lastname: Stoetzel
authors.forename: R
authors.initials: R
authors.lastname: Quillet
authors.forename: M
authors.initials: M
authors.lastname: Denton
authors.forename: M
authors.initials: M
authors.lastname: Maw
authors.forename: F
authors.initials: F
authors.lastname: Perrin-Schmitt
mesh_terms: D016569:Blepharophimosis / Q000235:genetics*; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D018389:Codon, Nonsense / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D018740:Genetic Heterogeneity; D005838:Genotype; D006801:Humans; D007194:India; D009687:Nuclear Proteins; D010641:Phenotype; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*; D051879:Twist-Related Protein 1
chemical_list: D018389:Codon, Nonsense; D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D014157:Transcription Factors; D051879:Twist-Related Protein 1