Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
About this item
Full title
Author / Creator
Publisher
London: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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. Case presentation We report the case of a six-month old gir...
Alternative Titles
Full title
Germline 3p22.1 microdeletion encompassing RPSA gene is an ultra-rare cause of isolated asplenia
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_9741c56b835f4cb7afe363dee7562643
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_9741c56b835f4cb7afe363dee7562643
Other Identifiers
ISSN
1755-8166
E-ISSN
1755-8166
DOI
10.1186/s13039-021-00571-0
