Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome
about
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndromeOptic Nerve Aplasia: Case Report and Literature ReviewOcular lymphatics: state-of-the-art reviewMicrocephaly 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-chorioretinopathy syndrome, autosomal recessive form. A case report.Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.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.Microcephaly-lymphoedema-chorioretinal-dysplasia syndrome with atrial septal defect.A novelKIF11mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family
P2860
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P2860
Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome
description
2001 nî lūn-bûn
@nan
2001 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome
@ast
Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome
@en
Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome
@nl
type
label
Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome
@ast
Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome
@en
Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome
@nl
prefLabel
Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome
@ast
Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome
@en
Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome
@nl
P2093
P356
P1476
Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome
@en
P2093
F De Tavernier
H Van Cleynenbreugel
I Casteels
K Devriendt
P Demaerel
P304
P356
10.1136/BJO.85.4.496D
P407
P577
2001-04-01T00:00:00Z