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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...
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| Foilsithe in: | Mol Genet Genomic Med |
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| Main Authors: | , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
John Wiley and Sons Inc.
2018
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6418348/ https://ncbi.nlm.nih.gov/pubmed/30569584 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.532 |
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