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...

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Detalles Bibliográficos
Autores principales: Jin, Huiying, Li, Haifeng, Qiang, Shu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
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

Internet

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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