Ending a diagnostic odyssey—The first case of Takenouchi–Kosaki syndrome in an African patient. Issue 4 (2nd March 2021)
- Record Type:
- Journal Article
- Title:
- Ending a diagnostic odyssey—The first case of Takenouchi–Kosaki syndrome in an African patient. Issue 4 (2nd March 2021)
- Main Title:
- Ending a diagnostic odyssey—The first case of Takenouchi–Kosaki syndrome in an African patient
- Authors:
- Flynn, Kaitlyn
Feben, Candice
Lamola, Lindiwe
Carstens, Nadia
Krause, Amanda
Lombard, Zané - Abstract:
- Abstract: First reported case of Takenouchi–Kosaki syndrome in an African patient with a de novo likely pathogenic missense variant identified in the CDC42 gene. Abstract : First reported case of Takenouchi–Kosaki syndrome in an African patient with a de novo, likely pathogenic missense variant identified in the CDC42 gene.
- Is Part Of:
- Clinical case reports. Volume 9:Issue 4(2021)
- Journal:
- Clinical case reports
- Issue:
- Volume 9:Issue 4(2021)
- Issue Display:
- Volume 9, Issue 4 (2021)
- Year:
- 2021
- Volume:
- 9
- Issue:
- 4
- Issue Sort Value:
- 2021-0009-0004-0000
- Page Start:
- 2144
- Page End:
- 2148
- Publication Date:
- 2021-03-02
- Subjects:
- CDC42 -- macrothrombocytopenia -- Takenouchi–Kosaki syndrome -- whole‐exome sequencing
Medicine -- Periodicals
616.09 - Journal URLs:
- http://onlinelibrary.wiley.com/ ↗
http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)2050-0904 ↗ - DOI:
- 10.1002/ccr3.3966 ↗
- Languages:
- English
- ISSNs:
- 2050-0904
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 22603.xml