H syndrome with possible new phenotypes.
作者信息
Al-Hamdi Khalil I, Ismael Dooha Khaleel, Qais Saadoon Anwar
机构信息
Department of Medicine, Basra Medical College, Basra, Iraq.
Division of Dermatology, Al-Sadr Teaching Hospital, Basra, Iraq.
出版信息
JAAD Case Rep. 2019 Apr 5;5(4):355-357. doi: 10.1016/j.jdcr.2019.02.003. eCollection 2019 Apr.
Abstract
摘要
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J Pediatr Urol. 2016 Jun;12(3):152.e1-7. doi: 10.1016/j.jpurol.2015.12.002. Epub 2015 Dec 31.
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9
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