A rare case of MYH9 disorders presenting with macrothrombocytopenia and deafness caused by MYH9-R702C mutation.
Kodama
Rumi
R
Taketani
Takeshi
T
Kunishima
Shinji
S
Mishima
Seiji
S
Yoshikawa
Yoko
Y
Kanai
Rie
R
Suyama
Tamiko
T
Yoshino
Isao
I
Kunishi
Hiroyuki
H
Shibata
Hiroshi
H
Nagai
Atsushi
A
Yamaguchi
Seiji
S
Masuda
Junichi
J
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
D019268:Antibodies, Antineutrophil Cytoplasmic; C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains