Erschienen in:
01.03.2010 | Letter to the Editor
A case of congenital bone marrow failure with radio-ulnar synostosis
verfasst von:
Hisao Yoshida, Yoshiko Hashii, Tokuko Okuda, Shigenori Kusuki, Emiko Sato, Akiko Inoue, Chihiro Kawakami, Miharu Yabe, Hideaki Ohta, Keiichi Ozono
Erschienen in:
International Journal of Hematology
|
Ausgabe 2/2010
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Excerpt
Bone marrow failure is often associated with skeletal defects, as seen in Fanconi anemia [
1], Diamond-Blackfan anemia [
2], or thrombocytopenia-absent radius syndrome [
3]. Congenital amegakaryocytic thrombocytopenia with radio-ulnar synostosis has been reported to be related with
HOXA11 mutation [
4]. We present a boy with congenital bone marrow failure with radio-ulnar synostosis, but without
HOXA11 mutation. …