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Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome

Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2746392052

Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome

About this item

Full title

Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome

Publisher

Singapore: Springer Nature Singapore

Journal title

International journal of hematology, 2023-04, Vol.117 (4), p.622-625

Language

English

Formats

Publication information

Publisher

Singapore: Springer Nature Singapore

More information

Scope and Contents

Contents

Takenouchi-Kosaki syndrome (TKS) is a rare congenital disease caused by a de novo heterozygous mutation in the CDC42 gene. Its characteristic clinical features are macrothrombocytopenia, developmental delay, dysmorphic facial features, and deafness. Splenectomy has been contraindicated for inherited thrombocytopenia, and there is little information...

Alternative Titles

Full title

Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2746392052

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2746392052

Other Identifiers

ISSN

0925-5710

E-ISSN

1865-3774

DOI

10.1007/s12185-022-03491-w

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