Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.

@article{Vona2016ConfirmationOP,
  title={Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.},
  author={Barbara Vona and Stanislav Lechno and Michaela A. H. Hofrichter and Susanne Hopf and Anne K L{\"a}ig and Thomas Haaf and Annerose Keilmann and Ulrich Zechner and Oliver Bartsch},
  journal={Ear and hearing},
  year={2016},
  volume={37 4},
  pages={e238-46}
}
OBJECTIVE PDZD7 was identified in 2009 in a family with apparent nonsyndromic sensorineural hearing loss. However, subsequent clinical reports have associated PDZD7 with digenic Usher syndrome, the most common cause of deaf-blindness, or as a modifier of retinal disease. No further reports have validated this gene for nonsyndromic hearing loss, intuitively calling correct genotype-phenotype association into question. This report describes a validating second case for biallelic mutations in… CONTINUE READING
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