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

First reported case of Takenouchi–Kosaki syndrome in an African patient with a de novo likely pathogenic missense variant identified in the CDC42 gene.

Detalles Bibliográficos
Autores principales: Flynn, Kaitlyn, Feben, Candice, Lamola, Lindiwe, Carstens, Nadia, Krause, Amanda, Lombard, Zané
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077267/
https://www.ncbi.nlm.nih.gov/pubmed/33936654
http://dx.doi.org/10.1002/ccr3.3966
Descripción
Sumario:First reported case of Takenouchi–Kosaki syndrome in an African patient with a de novo likely pathogenic missense variant identified in the CDC42 gene.

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