Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?

Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?

Item
http://www.wikidata.org/entity/Q41930243
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasiaThe swollen leg and primary lymphoedema.Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.Microcephaly-lymphedema syndrome: report of a family with short stature as additional manifestation.Microcephaly with chorioretinal degeneration.Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia.Congenital toxoplasmosis mimicking microcephaly-lymphedema-chorioretinal dysplasia.Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literatureA novelKIF11mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous familyRetinal and optic nerve changes in microcephaly: An optical coherence tomography study
P2860

Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?

Item
http://www.wikidata.org/entity/Q41930243
description
1992 nî lūn-bûn
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1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
1992年论文
@zh
1992年论文
@zh-cn
name
Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?
@en
type
label
Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?
@en
prefLabel
Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P921
P356
P1433
P1476
Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?
@en
P2093
P2860
P304
P31
P356
P433
P478
P577
P698
P921