Microcephaly-lymphedema-chorioretinopathy syndrome

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

None (1986) On congenital lymphedema.

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

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

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

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

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

Vasudevan PC et al. (2005) Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.

Orphanet article

OMIM.ORG article

Wikipedia article