PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0035333|retinitis |
| Sentences | 5 |
| PubMedID- 21267618 | Posterior column ataxia with retinitis pigmentosa (pcarp) is an autosomal recessive neurodegenerative disorder characterized by retinitis pigmentosa and sensory ataxia. |
| PubMedID- 24753676 | Bassen and kornzweig first reported the association of ataxia with atypical retinitis pigmentosa (rp) and acanthocytosis in 1950. |
| PubMedID- 22277444 | We performed target capture and next-generation sequencing analyses of a small consanguineous family in which only two members were affected by posterior column ataxia with retinitis pigmentosa (pcarp). |
| PubMedID- 24628582 | Posterior column ataxia with retinitis pigmentosa (pcarp) is an autosomal recessive disorder characterized by severe sensory ataxia, muscle weakness and atrophy, and progressive pigmentary retinopathy. |
| PubMedID- 23475516 | In this review, we outline some of our recent efforts in the medical genome center at the university of tokyo hospital, including an identification of the causative gene for a mendelian disease (posterior column ataxia with retinitis pigmentosa), an approach to uncover susceptible genes for a non-mendelian disease (parkinson disease), and an application of exome sequencing for the molecular diagnosis of a disease with vast genetic heterogeneity (hereditary diffuse leukoencephalopathy with spheroids). |
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