Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome.

Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome.

Item
http://www.wikidata.org/entity/Q41935550
Microcephaly, microphthalmos, and retinal folds: report of a familyCDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis.Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.Microcephaly, lymphedema, and chorioretinal dysplasia: report of two additional cases.Microcephaly-lymphedema-chorioretinal dysplasia: a unique genetic syndrome with variable expression and possible characteristic facial appearance.Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.Distinctive autosomal or X-linked dominant syndrome of microcephaly, mild developmental delay, short stature, and distinctive face.Lissencephaly and mild cerebellar vermis hypoplasia in a case of microcephaly and chorioretinal dysplasia.Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype.Interstitial del(13q) associated with blindness and mental retardation.Dominant exudative vitreoretinopathy and other vascular developmental disorders of the peripheral retina.Prenatal diagnosis of retinal nonattachment in the Walker-Warburg syndromeRetinal and optic nerve changes in microcephaly: An optical coherence tomography study
P2860

Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome.

Item
http://www.wikidata.org/entity/Q41935550
description
1981 nî lūn-bûn
@nan
1981年の論文
@ja
1981年論文
@yue
1981年論文
@zh-hant
1981年論文
@zh-hk
1981年論文
@zh-mo
1981年論文
@zh-tw
1981年论文
@wuu
1981年论文
@zh
1981年论文
@zh-cn
name
Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome.
@en
type
label
Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome.
@en
prefLabel
Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P921
P356
P1433
P1476
Microcephaly, microphthalmia, falciform retinal folds, and blindness. A new syndrome.
@en
P2093
P304
P31
P356
10.1001/ARCHPEDI.1981.02130340036013
P433
P478
P577
P698
P921