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Novel severe hemophilia A and moyamoya (SHAM) syndrome caused by Xq28 deletions encompassing F8 and BRCC3 genes
Blood ( IF 20.3 ) Pub Date : 2014-06-19 , DOI: 10.1182/blood-2014-02-553685 Szymon Janczar 1 , Anna Fogtman 2 , Marta Koblowska 3 , Dobromila Baranska 4 , Agata Pastorczak 1 , Olga Wegner 1 , Magdalena Kostrzewska 1 , Pawel Laguna 5 , Maciej Borowiec 1 , Wojciech Mlynarski 1
Blood ( IF 20.3 ) Pub Date : 2014-06-19 , DOI: 10.1182/blood-2014-02-553685 Szymon Janczar 1 , Anna Fogtman 2 , Marta Koblowska 3 , Dobromila Baranska 4 , Agata Pastorczak 1 , Olga Wegner 1 , Magdalena Kostrzewska 1 , Pawel Laguna 5 , Maciej Borowiec 1 , Wojciech Mlynarski 1
Affiliation
To the editor: A 10-year-old boy with severe hemophilia A and no other obvious morbidity arrived at the hospital with focal neurological signs and a suspected intracranial hemorrhage. Surprisingly, radiological studies demonstrated an ischemic stroke. Neither active thromboembolism nor genetic
中文翻译：
由包含 F8 和 BRCC3 基因的 Xq28 缺失引起的新型严重血友病 A 和烟雾病 (SHAM) 综合征
致编者：10岁男童，重度A型血友病，无其他明显并发症，以局灶性神经系统体征，疑似颅内出血入院。令人惊讶的是，放射学研究证实了缺血性中风。无论是活动性血栓栓塞还是遗传
更新日期：2014-06-19
中文翻译：
由包含 F8 和 BRCC3 基因的 Xq28 缺失引起的新型严重血友病 A 和烟雾病 (SHAM) 综合征
致编者：10岁男童，重度A型血友病，无其他明显并发症，以局灶性神经系统体征，疑似颅内出血入院。令人惊讶的是，放射学研究证实了缺血性中风。无论是活动性血栓栓塞还是遗传
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