费伦-麦克德米德综合征:西班牙一种罕见疾病的流行

Proceedings of MOL2NET'21, Conference on Molecular, Biomedical & Computational Sciences and Engineering, 7th ed. Pub Date : 2021-11-20 DOI:10.3390/mol2net-07-11835

F. Sempere, Mari Luz Moreno Sancho, E. Drehmer, Bárbara Gómez, Sandra Carrera Juliá, Marí Ángeles Navarro, M. J. Vega

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摘要

图形抽象抽象。Phelan-McDermid综合征(PMS)是一种罕见的遗传病，由22号染色体13.3区域的末端缺失以及SHANK3基因的点突变引起。最典型的临床症状是全面发育迟缓、语言缺失或严重迟缓、张力低下和自闭症谱系障碍。该综合征未得到充分诊断，其真实发病率仍不清楚，但全世界已报告了2000多例病例。本研究选取经前综合症确诊12年的患者为研究对象

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Phelan-McDermid Syndrome: The prevalence of a rare disease in Spain

Graphical Abstract Abstract. Phelan-McDermid Syndrome (PMS) is a rare genetic condition caused by a deletion of the terminal end of chromosome 22 in the 13.3 region, as well as, by point mutations within SHANK3 gene. The most characteristic clinical symptom is global developmental delay, absent or severely delayed speech, hypotonia and autism spectrum disorder. The syndrome is underdiagnosed and its real incidence remains unknown, but more than 2,000 cases have been reported worldwide. In the present investigation patients diagnosed with PMS for twelve years were recruited

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Proceedings of MOL2NET'21, Conference on Molecular, Biomedical & Computational Sciences and Engineering, 7th ed.

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