Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mikrocephalie-Lymphödem-Chorioretinopathie-Syndrom

Das Mikrocephalie-Lymphödem-Chorioretinopathie-Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im KIF11-Gen ausgelöst wird.

Gliederung

Hereditäres Lymphödem
Emberger-Syndrom
Hennekam-Syndrom
Hereditäres Lymphödem Typ 1a
Hereditäres Lymphödem Typ 1c
Hereditäres Lymphödem Typ 1d
Hereditäres Lymphödem mit Distichiasis
Mikrocephalie-Lymphödem-Chorioretinopathie-Syndrom
KIF11

Referenzen:

1.

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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2.

Ostergaard P et. al. (2012) Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

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3.

Mirzaa GM et. al. (2014) Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature.

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4.

Robitaille JM et. al. (2014) Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations.

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5.

Feingold M et. al. (1992) Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?

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6.

Manning FJ et. al. (1990) Electroretinograms in microcephaly with chorioretinal degeneration.

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7.

Young ID et. al. (1987) Microcephaly, microphthalmos, and retinal folds: report of a family.

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8.

None (1986) On congenital lymphedema.

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9.

Crowe CA et. al. (1986) A genetic association between microcephaly and lymphedema.

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10.

None (1987) Dominantly inherited syndrome of microcephaly and congenital lymphedema with normal intelligence.

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11.

None (1985) Dominantly inherited syndrome of microcephaly and congenital lymphedema.

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12.

McKusick VA et. al. (1966) Chorioretinopathy with hereditary microcephaly.

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13.

Alzial C et. al. (1980) ["True" microcephaly with dominant-inheritance chorioretinal dysplasia].

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14.

Jarmas AL et. al. (1981) Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome.

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15.

Tenconi R et. al. (1981) Chorio-retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome.

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16.

Angle B et. al. (1994) Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases.

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17.

Warburg M et. al. (1994) Chorioretinal dysplasia-microcephaly-mental retardation syndrome.

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18.

Sadler LS et. al. (1993) Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family.

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19.

Fryns JP et. al. (1995) On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association.

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20.

Hordijk R et. al. (1996) Chorioretinal dysplasia-microcephaly-mental retardation syndrome: another family with autosomal dominant inheritance.

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21.

Kozma C et. al. (1996) The microcephaly-lymphoedema syndrome: report of an additional family.

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22.

Strenge S et. al. (1998) Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation.

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23.

Limwongse C et. al. (1999) Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.

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24.

Abdel-Salam GM et. al. (2000) Microcephaly with chorioretinal dysplasia: characteristic facial features.

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