Das Mikrocephalie-Lymphödem-Chorioretinopathie-Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im KIF11-Gen ausgelöst wird.
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McKusick VA et al. (1966) Chorioretinopathy with hereditary microcephaly. |
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None (1985) Dominantly inherited syndrome of microcephaly and congenital lymphedema. |
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None (1987) Dominantly inherited syndrome of microcephaly and congenital lymphedema with normal intelligence. |
17. |
Crowe CA et al. (1986) A genetic association between microcephaly and lymphedema. |
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None (1986) On congenital lymphedema. |
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Young ID et al. (1987) Microcephaly, microphthalmos, and retinal folds: report of a family. |
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Manning FJ et al. (1990) Electroretinograms in microcephaly with chorioretinal degeneration. |
21. |
Feingold M et al. (1992) Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome? |
22. |
Robitaille JM et al. (2014) Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. |
23. |
Mirzaa GM et al. (2014) Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. |
24. |
Vasudevan PC et al. (2005) Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature. |
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Orphanet article Orphanet ID 2526 |
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OMIM.ORG article Omim 152950 |