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Chorioretinopathy with hereditary microcephaly.

作者信息

McKusick V A, Stauffer M, Knox D L, Clark D B

出版信息

Arch Ophthalmol. 1966 May;75(5):597-600. doi: 10.1001/archopht.1966.00970050599003.

DOI:10.1001/archopht.1966.00970050599003
PMID:5936364
Abstract
摘要

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1
Chorioretinopathy with hereditary microcephaly.伴有遗传性小头畸形的脉络膜视网膜病变
Arch Ophthalmol. 1966 May;75(5):597-600. doi: 10.1001/archopht.1966.00970050599003.
2
[Hereditary microcephaly with autosomal dominant chorioretinal dysplasia (author's transl)].
Sem Hop. 1981;57(1-2):43-6.
3
[Hereditary chorio-retinal degeneration (choroideremia) in dizygotic twins with symptomatologic dissociation].
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Microcephaly with chorioretinal dysplasia: characteristic facial features.小头畸形伴脉络膜视网膜发育异常：特征性面部特征。
Am J Med Genet. 2000 Dec 18;95(5):513-5. doi: 10.1002/1096-8628(20001218)95:5<513::aid-ajmg19>3.0.co;2-j.
5
[Genetic microcephaly and chorio-retinal dysplasia in siblings].
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6
["True" microcephaly with dominant-inheritance chorioretinal dysplasia].
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Chorio-retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome.脉络膜视网膜发育异常、小头畸形和智力发育迟缓。一种常染色体显性综合征。
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Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome?小头畸形、淋巴水肿和脉络膜视网膜发育异常：一种独特的综合征？
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A syndrome of multiple fundal anomalies in siblings with microcephaly without mental retardation.小头畸形但无智力障碍的同胞中出现多种眼底异常的综合征。
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A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion.
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Two-Compound Heterozygous Deletions Affecting in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation.影响一名小头畸形和眼部异常患者以及一名未出生的脑沟异常同胞的双复合杂合缺失。
Mol Syndromol. 2024 Dec;15(6):503-516. doi: 10.1159/000539099. Epub 2024 Jun 10.
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Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.小头畸形伴脉络膜视网膜病变或家族性渗出性玻璃体视网膜病变的基因型表型相关性及变异性。
Invest Ophthalmol Vis Sci. 2020 Nov 2;61(13):2. doi: 10.1167/iovs.61.13.2.
3
Zika virus infects cells lining the blood-retinal barrier and causes chorioretinal atrophy in mouse eyes.
寨卡病毒感染血视网膜屏障细胞，并导致小鼠眼睛脉络膜视网膜萎缩。
JCI Insight. 2017 Feb 23;2(4):e92340. doi: 10.1172/jci.insight.92340.
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No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.在伴有或不伴有脉络膜视网膜病变、淋巴水肿或智力迟钝综合征的家族性小头畸形中，没有基因座异质性的证据。
Orphanet J Rare Dis. 2015 May 2;10:52. doi: 10.1186/s13023-015-0271-4.
5
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.TUBGCP4 基因的突变通过 γ-微管蛋白环复合物改变微管组织，导致常染色体隐性遗传性小头畸形伴脉络膜视网膜病变。
Am J Hum Genet. 2015 Apr 2;96(4):666-74. doi: 10.1016/j.ajhg.2015.02.011. Epub 2015 Mar 26.
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Microcephaly-chorioretinopathy syndrome, autosomal recessive form. A case report.常染色体隐性遗传型小头畸形-脉络膜视网膜病变综合征。病例报告。
Sao Paulo Med J. 2015 Jul-Aug;133(4):377-80. doi: 10.1590/1516-3180.2013.7930003. Epub 2014 Oct 17.
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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations.伴有或不伴有脉络膜视网膜病变、淋巴水肿或智力障碍的小头畸形（MCLMR）：与KIF11突变相关的表型综述
Eur J Hum Genet. 2014 Jul;22(7):881-7. doi: 10.1038/ejhg.2013.263. Epub 2013 Nov 27.
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Genetic mapping and exome sequencing identify variants associated with five novel diseases.遗传图谱和外显子组测序鉴定与五种新疾病相关的变异。
PLoS One. 2012;7(1):e28936. doi: 10.1371/journal.pone.0028936. Epub 2012 Jan 17.
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Genetics of microphthalmos.小眼畸形的遗传学
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Genetical aspects of severe visual impairment in childhood.儿童严重视力损害的遗传学方面
J Med Genet. 1970 Sep;7(3):257-67. doi: 10.1136/jmg.7.3.257.