Clinical presentation of DFNB12 and Usher syndrome type 1D.
Bork
Julie M
JM
Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Md., USA. borkj@nidcd.nih.gov
Morell
Robert J
RJ
Khan
Shaheen
S
Riazuddin
Sheikh
S
Wilcox
Edward R
ER
Friedman
Thomas B
TB
Griffith
Andrew J
AJ
D000293:Adolescent; D000328:Adult; D000368:Aged; D000070585:Cadherin Related Proteins; D015820:Cadherins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D008040:Genetic Linkage; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000235:genetics; D013577:Syndrome; D015837:Vestibular Diseases / Q000235:genetics
C442480:CDH23 protein, human; D000070585:Cadherin Related Proteins; D015820:Cadherins