Variable phenotype and discrete alterations of immune phenotypes in CTP synthase 1 deficiency: report of two siblings
We describe the phenotype of 2 siblings with combined immunodeficiency due to CTPS1 deficiency and demonstrate the value of WES for rapid diagnosis of primary immunodeficiency even for conditions whose phenotype is not well recognized.
| Main Authors: | , , , , , , , |
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| Format: | Journal article |
| Published: |
Elsevier
2016
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