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Case report of a novel PCDH19 frameshift mutation in a girl with epilepsy and mental retardation limited to females

RATIONALE: Epilepsy with mental retardation limited to females (EFMR) is a rare type of X-linked epilepsy disorder, affecting heterozygous females disproportionately. The pathogenesis of EFMR has been identified as mutations in the protocadherin 19 (PCDH19) gene. To data, more than 60 different muta...

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Detalles Bibliográficos
Autores principales:	Zhang, Xinying, Chen, Na, Ma, Aihua, Wang, Xueyu, Sun, Wenxiu, Gao, Yuxing
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer Health 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6320026/ https://www.ncbi.nlm.nih.gov/pubmed/30572518 http://dx.doi.org/10.1097/MD.0000000000013749

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