title: An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12.
authors.forename: Pierre
authors.initials: P
authors.lastname: Boisseau
authors.forename: Mathilde
authors.initials: M
authors.lastname: Giraud
authors.forename: Catherine
authors.initials: C
authors.lastname: Ternisien
authors.forename: Agnès
authors.initials: A
authors.lastname: Veyradier
authors.forename: Edith
authors.initials: E
authors.lastname: Fressinaud
authors.forename: Armelle
authors.initials: A
authors.lastname: Lefrancois
authors.forename: Stéphane
authors.initials: S
authors.lastname: Bezieau
authors.forename: Marc
authors.initials: M
authors.lastname: Fouassier
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002675:Child, Preschool; D002881:Chromosomes, Human, Pair 12; D005260:Female; D005838:Genotype; D006403:Hematologic Tests; D006801:Humans; D010375:Pedigree; D017384:Sequence Deletion; D024182:Uniparental Disomy; D056729:von Willebrand Disease, Type 3 / Q000175:diagnosis / Q000235:genetics*