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Ending a diagnostic odyssey-The first case of Takenouchi-Kosaki syndrome in an African patient.
Flynn, Kaitlyn; Feben, Candice; Lamola, Lindiwe; Carstens, Nadia; Krause, Amanda; Lombard, Zané.
Affiliation
  • Flynn K; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa.
  • Feben C; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa.
  • Lamola L; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa.
  • Carstens N; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa.
  • Krause A; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa.
  • Lombard Z; Division of Human Genetics, National Health Laboratory Service and School of Pathology, Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa.
Clin Case Rep ; 9(4): 2144-2148, 2021 Apr.
Article in En | MEDLINE | ID: mdl-33936654
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Prognostic_studies Language: En Journal: Clin Case Rep Year: 2021 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Prognostic_studies Language: En Journal: Clin Case Rep Year: 2021 Document type: Article