Thrombocytopaenia with absent radius (not radii).
作者信息
Yanamandra Uday, Sahu Kamal Kant, Malhotra Pankaj, Varma Subhash
机构信息
Department of Hematology, Internal Medicine, PGIMER, Chandigarh, India.
出版信息
BMJ Case Rep. 2014 Jun 2;2014:bcr2014204844. doi: 10.1136/bcr-2014-204844.
Abstract
摘要
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Thrombocytopaenia with absent radius (not radii).
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本文引用的文献
1
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Am J Hum Genet. 2007 Feb;80(2):232-40. doi: 10.1086/510919. Epub 2006 Dec 21.
2
Thrombocytopenia-absent radius syndrome: a clinical genetic study.
J Med Genet. 2002 Dec;39(12):876-81. doi: 10.1136/jmg.39.12.876.
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