Open AccessEnding a diagnostic odyssey—The first case of Takenouchi–Kosaki syndrome in an African patient
Author(s) -
Flynn Kaitlyn,
Feben Candice,
Lamola Lindiwe,
Carstens Nadia,
Krause Amanda,
Lombard Zané
Publication year - 2021
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3966
Subject(s) - medicine , missense mutation , pediatrics , gene , genetics , mutation , biology
First reported case of Takenouchi–Kosaki syndrome in an African patient with a de novo likely pathogenic missense variant identified in the CDC42 gene.