Disease | cone-rod dystrophy |
Phenotype | C0265294|metaphyseal dysplasia |
Sentences | 6 |
PubMedID- 20141353 | Conclusions: spondylometaphyseal dysplasia with cone-rod dystrophy is a rare congenital disorder of unknown inheritance pattern and pathophysiolgy. |
PubMedID- 21412974 | We report on a boy of a unique form of spondylometaphyseal dysplasia associated with cone-rod dystrophy. |
PubMedID- 24387991 | Spondylometaphyseal dysplasia with cone-rod dystrophy is a rare autosomal-recessive disorder characterized by severe short stature, progressive lower-limb bowing, flattened vertebral bodies, metaphyseal involvement, and visual impairment caused by 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- 24476460 | Novel mutations in pcyt1a are responsible for 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. |
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