title: Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B.
authors.forename: B
authors.initials: B
authors.lastname: Drera
authors.forename: N
authors.initials: N
authors.lastname: Zoppi
authors.forename: S
authors.initials: S
authors.lastname: Barlati
authors.forename: M
authors.initials: M
authors.lastname: Colombi
mesh_terms: D001176:Arthrogryposis / Q000235:genetics* / Q000473:pathology; D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics*; D005260:Female; D006801:Humans; D007558:Italy; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017422:Sequence Analysis, DNA; D019210:Troponin I / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D019210:Troponin I