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Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome
Exome sequencing revealed the cause of our 35‐year‐old male patient's progressive and severe intellectual and motor disability, namely a previously undescribed missense mutation of MECP2.
| Autores principales: | , , , |
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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/PMC8380086/ https://www.ncbi.nlm.nih.gov/pubmed/34457282 http://dx.doi.org/10.1002/ccr3.4602 |