Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype.

Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype.

Item
http://www.wikidata.org/entity/Q51903850
Zika virus infects cells lining the blood-retinal barrier and causes chorioretinal atrophy in mouse eyesMutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.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.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.
P2860

Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype.

Item
http://www.wikidata.org/entity/Q51903850
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Microcephaly with chorioretino ...... ation of the ocular phenotype.
@en
Microcephaly with chorioretino ...... ation of the ocular phenotype.
@nl
type
label
Microcephaly with chorioretino ...... ation of the ocular phenotype.
@en
Microcephaly with chorioretino ...... ation of the ocular phenotype.
@nl
prefLabel
Microcephaly with chorioretino ...... ation of the ocular phenotype.
@en
Microcephaly with chorioretino ...... ation of the ocular phenotype.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P921
P356
P1433
P1476
Microcephaly with chorioretino ...... ation of the ocular phenotype.
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P698
P921