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PedAM

Pediatric Disease Annotations & Medicines




Disease usher syndrome
Symptom C0456909|blindness
Sentences 4
PubMedID- 22977115 Ush2a and gpr98 have been found to be mutated in usher syndrome, a ciliopathy leading to deafness and blindness, and found to potentially interact in the extracellular gap (maerker et al.
PubMedID- 20146813 blindness developed due to usher syndrome), an initial set of genes were selected for inclusion on one or both hearing loss arrays (e.g.
PubMedID- 22132314 usher syndrome, the commonest cause of deaf-blindness, is characterized by retinal degeneration, hearing loss, and, in some cases, abnormal vestibular function.
PubMedID- 22532808 Intriguingly, dysc is the closest drosophila homolog of whirlin, a gene linked to type ii usher syndrome, the leading cause of deaf-blindness in humans.

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