Ending a diagnostic odyssey—The first case of Takenouchi–Kosaki syndrome in an African patient

Clinical Case Reports

Kaitlyn Flynn¹  Zané Lombard¹  Lindiwe Lamola¹  Candice Feben¹  Nadia Carstens¹  Amanda Krause¹ 

[1] Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa;

关键词: CDC42;    macrothrombocytopenia;    Takenouchi–Kosaki syndrome;    whole‐exome sequencing;   

DOI  :  10.1002/ccr3.3966

来源: Wiley

【 授权许可】

CC BY