title: A rare case of MYH9 disorders presenting with macrothrombocytopenia and deafness caused by MYH9-R702C mutation.
authors.forename: Rumi
authors.initials: R
authors.lastname: Kodama
authors.forename: Takeshi
authors.initials: T
authors.lastname: Taketani
authors.forename: Shinji
authors.initials: S
authors.lastname: Kunishima
authors.forename: Seiji
authors.initials: S
authors.lastname: Mishima
authors.forename: Yoko
authors.initials: Y
authors.lastname: Yoshikawa
authors.forename: Rie
authors.initials: R
authors.lastname: Kanai
authors.forename: Tamiko
authors.initials: T
authors.lastname: Suyama
authors.forename: Isao
authors.initials: I
authors.lastname: Yoshino
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kunishi
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shibata
authors.forename: Atsushi
authors.initials: A
authors.lastname: Nagai
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamaguchi
authors.forename: Junichi
authors.initials: J
authors.lastname: Masuda
mesh_terms: D000328:Adult; D019268:Antibodies, Antineutrophil Cytoplasmic / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D020409:Molecular Motor Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D018995:Myosin Heavy Chains / Q000235:genetics*; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics*; D055815:Young Adult
chemical_list: D019268:Antibodies, Antineutrophil Cytoplasmic; C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains