Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
Abstract Background 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 childhood and antibiotic prophylaxis applied with additional vaccinations....
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2021-11-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13039-021-00571-0 |