A pedigree with Pendred syndrome: case report and discussion on hereditary hearing loss.
After presenting the case of a Japanese pedigree with Pendred syndrome we discuss whether congenital hearing loss such as Pendred syndrome can be avoided.
Hiyoshi
Motofumi
M
Department of Otolaryngology and Head & Neck Surgery, Osaka City University Graduate School of Medicine, Osaka, Japan.
Yamane
Hideo
H
D003241:Consanguinity; D005260:Female; D005808:Genes, Recessive; D006042:Goiter / Q000235:genetics / Q000601:surgery; D006319:Hearing Loss, Sensorineural / Q000151:congenital* / Q000235:genetics*; D006801:Humans; D007455:Iodine / Q000172:deficiency; D026901:Membrane Transport Proteins / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D000076988:Sulfate Transporters; D013577:Syndrome
D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D007455:Iodine