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An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation
BACKGROUND: The clinical spectrum of Rett syndrome (RTT; Mendelian Inheritance in Man [MIM] #312750) in males is considered to be wider than previously expected. Therefore, the existence of RTT with a normal male karyotype is still controversial. Here, we report the first case of a male patient pres...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418348/ https://www.ncbi.nlm.nih.gov/pubmed/30569584 http://dx.doi.org/10.1002/mgg3.532 |