Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22.
Dollfus
H
H
Kumaramanickavel
G
G
Biswas
P
P
Stoetzel
C
C
Quillet
R
R
Denton
M
M
Maw
M
M
Perrin-Schmitt
F
F
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
D018389:Codon, Nonsense; D009687:Nuclear Proteins; C103173:TWIST1 protein, human; D014157:Transcription Factors; D051879:Twist-Related Protein 1