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Gene screening facilitates diagnosis of complicated symptoms: A case report

Gene mutation has an important role in disease pathogenesis; therefore, genetic screening is a useful tool for diagnosis. The present study screened pathogenic genes, ectodysplasin A (EDA) and lamin A/C (LMNA), in a patient with suspected syndromic hearing impairment and various other symptoms inclu...

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Detalles Bibliográficos
Autores principales: Duan, Hong, Zhang, Di, Cheng, Jing, Lu, Yu, Yuan, Huijun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779872/
https://www.ncbi.nlm.nih.gov/pubmed/28944914
http://dx.doi.org/10.3892/mmr.2017.7590

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