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   Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia  
   
نویسنده Notarangelo Luigi D
منبع journal of human genetics - 2017 - دوره : 62 - شماره : 8 - صفحه:737 -738
  
آدرس National Institutes of Health, Division of Intramural Research, Laboratory of Host Defenses, USA
 
     
   
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