Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings.
Arellano
B
B
Pera
A
A
Ramírez-Camacho
R
R
Villamar
M
M
Trinidad
A
A
García
J R
JR
Moreno
F
F
Hernández-Chico
C
C
D001692:Biological Transport; D002648:Child; D002897:Chromosomes, Human, Pair 7; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D005838:Genotype; D006042:Goiter / Q000235:genetics*; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D000076988:Sulfate Transporters; D013431:Sulfates; D013577:Syndrome
D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D013431:Sulfates