R1933X mutation in the MYH9 gene in May-Hegglin anomaly mimicking idiopathic thrombocytopenic purpura

May-Hegglin anomaly (MHA) is a rare autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and inclusion bodies in leukocytes. Recent evidence links MHA to mutations in the MYH9 gene. MHA has not been reported in Taiwan before. We report a 25-year-old Taiwanese...

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Bibliographic Details
Published in:	Journal of the Formosan Medical Association Vol. 113; no. 1; pp. 56 - 59
Main Authors:	Sung, Chih-Chien, Lin, Shih-Hua, Chao, Tai-Kuang, Chen, Yeu-Chin
Format:	Journal Article
Language:	English
Published:	Singapore Elsevier B.V 01-01-2014 Elsevier
Subjects:	Adult Diagnosis, Differential giant platelets Humans Internal Medicine leukocyte inclusions Male Molecular Motor Proteins - genetics Mutation MYH9-related disorder Myosin Heavy Chains - genetics Purpura, Thrombocytopenic, Idiopathic - diagnosis Thrombocytopenia - diagnosis Thrombocytopenia - genetics leukocyte inclusions giant platelets MYH9-related disorder
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