A novel immunodeficiency syndrome associated with partial trisomy 19p13
نویسندگان
چکیده
منابع مشابه
A novel immunodeficiency syndrome associated with partial trisomy 19p13
BACKGROUND Subtelomeric deletions and duplications may cause syndromic disorders that include features of immunodeficiency. To date, no phenotype of immunological pathology has been linked to partial trisomy 19. We report here on two unrelated male patients showing clinical and laboratory signs of immunodeficiency exhibiting a duplication involving Chromosome 19p13. METHODS Both patients unde...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2014
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmedgenet-2013-102122