TY  - JOUR
AU  - Martín-Sierra, Carmen
AU  - Gallego-Martinez, Alvaro
AU  - Requena, Teresa
AU  - Frejo, Lidia
AU  - Batuecas-Caletrío, Angel
AU  - Lopez-Escamez, Jose A
PY  - 2016
DO  - 10.1038/ejhg.2016.154
UR  - http://hdl.handle.net/10668/10628
T2  - European journal of human genetics : EJHG
AB  - 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...
LA  - en
KW  - Adult
KW  - Aged
KW  - Chondroitin Sulfate Proteoglycans
KW  - Cochlea
KW  - Extracellular Matrix Proteins
KW  - Female
KW  - Genes, Dominant
KW  - Genetic Heterogeneity
KW  - Humans
KW  - Male
KW  - Meniere Disease
KW  - Middle Aged
KW  - Molecular Dynamics Simulation
KW  - Pedigree
KW  - Penetrance
KW  - Phenotype
KW  - Semaphorins
TI  - Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease.
TY  - research article
VL  - 25
ER  -