eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cone rod dystrophy |
| Comorbidity | C0265294|metaphyseal dysplasia |
| Sentences | 7 |
| PubMedID- 24387991 | Mutations in pcyt1a cause spondylometaphyseal dysplasia with cone-rod dystrophy. |
| PubMedID- 21412974 | We report on a boy of a unique form of spondylometaphyseal dysplasia associated with cone-rod dystrophy. |
| PubMedID- 24476460 | Novel mutations in pcyt1a are responsible for spondylometaphyseal dysplasia with cone-rod dystrophy. |
| PubMedID- 25178427 | Boucher-neuhauser/gordon holmes syndrome (pnpla6), pharc syndrome (abhd12), hereditary spastic paraplegia type 28, 54 and 56 (hsp28, ddhd1; hsp54, ddhd2; hsp56, cyp2u1), lenz majewski syndrome (ptdss1), spondylometaphyseal dysplasia with cone-rod dystrophy (pcyt1a), atypical haemolytic-uremic syndrome due to dgke deficiency (dgke). |
| PubMedID- 20141353 | Purpose: to report on the clinical ophthalmologic and radiographic findings in spondylometaphyseal dysplasia with cone-rod dystrophy. |
| PubMedID- 24387990 | Mutations in pcyt1a, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy. |
| PubMedID- 23371363 | Axial spondylometaphyseal dysplasia with retinitis pigmentosa--a clinical report and diagnostic clues. |
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