Wolcott-Rallison-Syndrom
Das Wolcott-Rallison-Syndrom ist eine autosomal rezessive Errkankung, die durch Mutationen im EIF2AK3-Gen ausgelöst wird. Neben einem frühzeitig auftretenden Diabetes melitus ist sie durch epiphyseale Dysplasie gekennzeichnet.
Gliederung
Permanenter neonataler Diabetes mellitus
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ABCC8
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DEND-Syndrom
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GCK
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INS
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KCNJ11
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Phosphoribosylpyrophosphat-Synthetase-Überaktivität
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Wolcott-Rallison-Syndrom
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EIF2AK3
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Referenzen:
| 1. |
al-Gazali LI et. al. (1995) Wolcott-Rallison syndrome. [^] |
| 2. |
Delépine M et. al. (2000) EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome. [^] |
| 3. |
Brickwood S et. al. (2003) Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3. [^] |
| 4. |
Durocher F et. al. (2006) A novel mutation in the EIF2AK3 gene with variable expressivity in two patients with Wolcott-Rallison syndrome. [^] |
| 5. |
Wolcott CD et. al. (1972) Infancy-onset diabetes mellitus and multiple epiphyseal dysplasia. [^] |
| 6. |
Stöss H et. al. (1982) Wolcott-Rallison syndrome: diabetes mellitus and spondyloepiphyseal dysplasia. [^] |
| 7. |
Stewart FJ et. al. (1996) Wolcott-Rallison syndrome associated with congenital malformations and a mosaic deletion 15q 11-12. [^] |
| 8. |
Bonthron DT et. al. (1998) Organisation of the human PAX4 gene and its exclusion as a candidate for the Wolcott-Rallison syndrome. [^] |
| 9. |
Bin-Abbas B et. al. (2002) Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism. [^] |
| 10. |
Bin-Abbas B et. al. () Wolcott-Rallison syndrome: clinical, radiological and histological findings in a Saudi child. [^] |
