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Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease

Autosomal dominant (AD) familial Meniere's disease (FMD) is a rare disorder involving the inner ear defined by sensorineural hearing loss, tinnitus and episodic vertigo. Here, we have identified two novel and rare heterozygous variants in the SEMA3D and DPT genes segregating with the complete p...

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Publicado en:Eur J Hum Genet
Autores principales: Martín-Sierra, Carmen, Gallego-Martinez, Alvaro, Requena, Teresa, Frejo, Lidia, Batuecas-Caletrío, Angel, Lopez-Escamez, Jose A
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2017
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5255954/
https://ncbi.nlm.nih.gov/pubmed/27876815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.154
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