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Coffin-Lowry Syndrome Induced by RPS6KA3 Gene Variation in China: A Case Report in Twins
Background and objectives: Coffin-Lowry Syndrome (CLS), a rare neurodegenerative disorder, is mainly diagnosed based on clinical manifestations and molecular analyses. In total, about 20 cases of CLS have been reported in China. Here, we report two cases of CLS in identical twin brothers and examine...
Autores principales: | Jin, Huiying, Li, Haifeng, Qiang, Shu |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9320784/ https://www.ncbi.nlm.nih.gov/pubmed/35888677 http://dx.doi.org/10.3390/medicina58070958 |
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