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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.
Autores principales: | Flynn, Kaitlyn, Feben, Candice, Lamola, Lindiwe, Carstens, Nadia, Krause, Amanda, Lombard, Zané |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2021
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Materias: | |
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 |
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