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Report of a New Case of Pentasomy X Revealed by Status Epilepticus
This report describes an exceptional case of X (49, XXXXX) pentasomy in a girl aged three years and five months. She was admitted for recurrent seizures revealing epilepsy. She has growth failure and psychomotor retardation with a deformed face. The malformative assessment did not show any malformat...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8330396/ https://www.ncbi.nlm.nih.gov/pubmed/34367739 http://dx.doi.org/10.7759/cureus.16062 |