| Autor: |
Helber, Hannah Leigh, Kim, Taylor Olmsted, HyoJeong Han |
| Zdroj: |
BMJ Case Reports; Jun2024, Vol. 17 Issue 6, p1-3, 3p |
| Abstrakt: |
We present a case of a child with congenital thrombotic thrombocytopenic purpura found to have a compound heterozygous variant in the ADAMTS13 gene with a novel variant resulting in a large duplication of exons 9–11 of ADAMTS13. This variant was identified through additional molecular testing via a chromosomal microarray analysis. To our knowledge, this assay had not previously been utilised to identify an ADAMTS13 variant and the additional testing was possible through the involvement of a genetic counsellor. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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