Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
Isolated Congenital Asplenia (ICA, OMIM #271400) is a rare, life-threatening abnormality causing immunodeficiency, which is characterized by the absence of a spleen. Diagnosis should be completed in early chil...
Source: Molecular Cytogenetics - Category: Molecular Biology Authors: Aleksandra Oszer, Katarzyna B ąbol-Pokora, Sylwia Kołtan, Agata Pastorczak and Wojciech Młynarski Tags: Case Report Source Type: research