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HEREDITARY CATARACTS AND MICROPHTHALMIA.

作者信息

CAPELLA J A, KAUFMAN H E, LILL F J

出版信息

Am J Ophthalmol. 1963 Sep;56:454-8. doi: 10.1016/0002-9394(63)93132-5.

DOI:10.1016/0002-9394(63)93132-5
PMID:14064894
Abstract
摘要

相似文献

1
HEREDITARY CATARACTS AND MICROPHTHALMIA.遗传性白内障与小眼球症
Am J Ophthalmol. 1963 Sep;56:454-8. doi: 10.1016/0002-9394(63)93132-5.
2
[PRELIMINARY NOTE ON 2 FAMILIAL CASES OF CONGENITAL MICROPHTHALMUS, ASSOCIATED WITH MODERATE HYDROCEPHALUS AND CATARACT].
Minerva Pediatr. 1964 Sep 29;16:1002-4.
3
[ON MICROPHTHALMOS, MACULAR CHANGES AND REFRACTION IN A CASE OF HALLERMANN-STREIFF MANDIBULOFACIAL DYSOSTOSIS ("DYSCEPHALY" OF ULLRICH ADND FREMEREY-DOHNA, FRAN COIS DYSCEPHALY SYNDROME)].
Klin Monbl Augenheilkd. 1964 Jul;144:887-99.
4
[ULTRASONICS DIAGNOSIS OF MICROPHTHALMIA WITHOUT MICROCORNEA, WITH MACROPHAKIA, HIGH HYPERMETROPIA ASSOCIATED WITH TAPETO-RETINAL DEGENERATION, A GLAUCOMATOUS PREDISPOSITION AND DENTAL ANOMALIES (NEW FAMILIAL SYNDROME)].[无小角膜、有大晶状体、高度远视合并脉络膜视网膜变性、青光眼易感性及牙齿异常的小眼球超声诊断（新的家族性综合征）]
Arch Ophtalmol Rev Gen Ophtalmol. 1965 Jan-Feb;25:105-16.
5
[Clinical characteristics and results of microsurgical treatment of bilateral congenital cataracts associated with microphthalmos].[双侧先天性白内障合并小眼球的临床特征及显微手术治疗结果]
Vestn Oftalmol. 1991 May-Jun;107(3):32-5.
6
Identification of PITX3 mutations in individuals with various ocular developmental defects.患有各种眼部发育缺陷个体中PITX3突变的鉴定。
Ophthalmic Genet. 2018 Jun;39(3):314-320. doi: 10.1080/13816810.2018.1430243. Epub 2018 Feb 6.
7
[Microphthalmia, microcornea and congenital cataract].
Ned Tijdschr Geneeskd. 1956 Oct 13;100(41):2910-3.
8
Congenital cataract, microphthalmia and septal heart defect in two generations: a new syndrome?
Clin Dysmorphol. 1993 Apr;2(2):114-9.
9
MICROPHTHALMOS, CORNEAL OPACITY, MENTAL RETARDATION, AND SPASTIC CEREBRAL PALSY; AN OCULOCEREBRAL SYNDROME.小眼症、角膜混浊、智力发育迟缓与痉挛性脑瘫；一种眼脑综合征。
J Pediatr. 1965 Sep;67:387-98. doi: 10.1016/s0022-3476(65)80399-7.
10
MICROPHTHALMIA WITH ASSOCIATED PSEUDOGLIOMATOSIS OF THE RETINA AND PSEUDOGLIOMATOUS ORBITAL CYST.小眼球伴视网膜假性胶质瘤及假性胶质瘤性眼眶囊肿
Acta Ophthalmol (Copenh). 1965;43:240-4. doi: 10.1111/j.1755-3768.1965.tb05445.x.

引用本文的文献

1
Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.非综合征性小眼症临床应用基因卡，包括基于下一代测序的方法。
Eur J Hum Genet. 2017 Apr;25(4). doi: 10.1038/ejhg.2016.201. Epub 2017 Jan 18.
2
A novel locus for X-linked congenital cataract on Xq24.位于Xq24的X连锁先天性白内障新位点。
Mol Vis. 2008 Apr 18;14:721-6.
3
Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.常见的MFRP序列变异与中度至高度远视、孤立性小眼症和高度近视无关。
Mol Vis. 2008 Mar 4;14:387-93.
4
Manifesting heterozygosity in Norrie's disease?诺里病中表现为杂合子状态？
Br J Ophthalmol. 1993 Dec;77(12):813-4. doi: 10.1136/bjo.77.12.813.
5
Aetiology of severe visual impairment and blindness in microphthalmos.小眼症中严重视力损害和失明的病因
Br J Ophthalmol. 1994 May;78(5):332-4. doi: 10.1136/bjo.78.5.332.
6
X-linked dominant inherited diseases with lethality in hemizygous males.半合子男性致死的X连锁显性遗传病。
Hum Genet. 1983;64(1):1-23. doi: 10.1007/BF00289472.
7
Genetics of microphthalmos.小眼畸形的遗传学
Int Ophthalmol. 1981 Aug;4(1-2):45-65. doi: 10.1007/BF00139580.
8
X-chromosomal-linked diseases affecting the eye: status of the heterozygote female.影响眼睛的X染色体连锁疾病：杂合子女性的状况
Trans Am Ophthalmol Soc. 1969;67:535-608.
9
Non-oxygen induced retinitis proliferans and retinal detachment in full-term infants.足月儿非氧诱导性增殖性视网膜病变和视网膜脱离
Br J Ophthalmol. 1974 May;58(5):490-513. doi: 10.1136/bjo.58.5.490.
10
Mapping the gene for X-linked cataracts and microcornea with facial, dental, and skeletal features to Xp22: an appraisal of the Nance-Horan syndrome.将伴有面部、牙齿和骨骼特征的X连锁白内障和小角膜基因定位到Xp22：对南斯-霍兰综合征的评估
Trans Am Ophthalmol Soc. 1989;87:658-728.