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.
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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. ![]() |
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Brickwood S et al. (2003) Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3. ![]() |
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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. ![]() |
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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. ![]() |
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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. ![]() |
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Orphanet article Orphanet ID 1667![]() |
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OMIM.ORG article Omim 226980![]() |