Article
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.
Ear and hearing - 1 Jan 2000
Vona Barbara, Lechno Stanislav, Hofrichter Michaela A H, Hopf Susanne, Läig Anne K, Haaf Thomas, Keilmann Annerose, Zechner Ulrich, Bartsch Oliver
Abstract excerpt
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...
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