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First Chinese patient with mental retardation-40 due to a de novo CHAMP1 frameshift mutation: Case report and literature review
Mental retardation-40 (MRD40) is a rare autosomal dominant neurodevelopmental disorder with a poor prognosis that is caused by a heterozygous mutation in chromosome alignment maintaining phosphoprotein 1 (CHAMP1). It was previously considered a non-syndromic disease due to the lack of specific exter...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
D.A. Spandidos
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8243316/ https://www.ncbi.nlm.nih.gov/pubmed/34257719 http://dx.doi.org/10.3892/etm.2021.10339 |