Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.
about
Chorioretinopathy and microcephaly with normal development.Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.Microcephaly with chorioretinal dysplasia: two case reports and a review of the literature.Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders.Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia.Congenital toxoplasmosis mimicking microcephaly-lymphedema-chorioretinal dysplasia.A novelKIF11mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family
P2860
Q37045703-7AD693F8-4083-4DCA-B901-ED9E7AE5AADCQ37609931-DF6DC84F-E33F-4DB4-A554-FD618651C640Q37620356-A3FC65F7-657F-4C55-9BA0-4715979393C5Q41934173-6DC026D4-E6A6-4F96-8DEC-B6A03F2FAE79Q41936762-D554531D-A049-49B8-B67A-B318D6453DF2Q42769991-BEF4B1B2-D52F-4AC0-B41C-8EDA9ED2D81AQ57150818-A279AF99-F94F-4E35-9C92-2F6A3076D960
P2860
Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
1999年论文
@zh
1999年论文
@zh-cn
name
Microcephaly-lymphedema-chorio ...... racteristic facial appearance.
@en
type
label
Microcephaly-lymphedema-chorio ...... racteristic facial appearance.
@en
prefLabel
Microcephaly-lymphedema-chorio ...... racteristic facial appearance.
@en
P2093
P1476
Microcephaly-lymphedema-chorio ...... racteristic facial appearance.
@en
P2093
Dickerman LH
Limwongse C
Wyszynski RE
P2860
P304
P356
10.1002/(SICI)1096-8628(19990917)86:3<215::AID-AJMG4>3.0.CO;2-E
P577
1999-09-01T00:00:00Z