Inheritance of Duane's syndrome.
作者信息
Kirkham T H
出版信息
Br J Ophthalmol. 1970 May;54(5):323-9. doi: 10.1136/bjo.54.5.323.
Abstract
摘要
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Pseudo-Duane retraction syndrome after orbital myositis.眼眶肌炎后假性杜安眼球后退综合征
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Absent cochlear and abducens nerves in a patient with Duane retraction syndrome.一名患有杜安眼球后退综合征的患者缺失耳蜗神经和展神经。
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Duane retraction syndrome: causes, effects and management strategies.杜安眼球后退综合征：病因、影响及治疗策略。
Clin Ophthalmol. 2017 Oct 30;11:1917-1930. doi: 10.2147/OPTH.S127481. eCollection 2017.
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Wildervanck syndrome with hypoplastic frontal sinus: A rare case presentation.伴有额窦发育不全的Wildervanck综合征：一例罕见病例报告。
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Two novel CHN1 mutations in 2 families with Duane retraction syndrome.两个患有杜安眼球后退综合征的家族中发现两种新的CHN1突变。
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CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.CHN1基因突变并非散发性杜安眼球后退综合征的常见病因。
Am J Med Genet A. 2010 Jan;152A(1):215-7. doi: 10.1002/ajmg.a.33168.
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Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.一个常染色体显性遗传杜安眼球后退综合征家族中与I126M α2-嵌合蛋白突变相关的临床特征
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Two pedigrees segregating Duane's retraction syndrome as a dominant trait map to the DURS2 genetic locus.两个将杜安眼球后退综合征作为显性性状进行分离的家系定位于DURS2基因座。
Invest Ophthalmol Vis Sci. 2007 Jan;48(1):189-93. doi: 10.1167/iovs.06-0631.
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HOXA1 mutations are not a common cause of Duane anomaly.HOXA1基因突变并非杜安综合征的常见病因。
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本文引用的文献
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Role of heredity in etiology and treatment of strabismus.
AMA Arch Ophthalmol. 1952 Jan;47(1):1-20. doi: 10.1001/archopht.1952.01700030004001.
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KLIPPEL-FEIL SYNDROME.克利佩尔-费尔综合征
J Am Med Womens Assoc. 1965 Jun;20:547-50.
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[THALIDOMIDE AND CONGENITAL ABNORMALITIES OF THE EYE].[沙利度胺与眼部先天性异常]
Ber Zusammenkunft Dtsch Ophthalmol Ges. 1964;65:209-15.
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WILDERVANCK'S SYNDROME. KLIPPEL-FEIL'S SYNDROME ASSOCIATED WITH DEAFNESS AND RETRACTION OF THE EYEBALL.维尔丹克综合征。与耳聋及眼球内陷相关的克利佩尔-费尔综合征。
Br J Radiol. 1963 Aug;36:562-7. doi: 10.1259/0007-1285-36-428-562.
6
Congenital paralysis of lateral conjugate gaze; occurrence in a case of Klippel-Feil syndrome.先天性外展神经麻痹；发生于1例Klippel-Feil综合征患者
AMA Arch Ophthalmol. 1958 Mar;59(3):463-4. doi: 10.1001/archopht.1958.00940040169020.
7
A case of Klippel-Feil's syndrome with abducens paralysis; retraction of the eyeball and deaf-mutism.1例伴有展神经麻痹、眼球内陷及聋哑的克利佩尔-费尔综合征
Ned Tijdschr Geneeskd. 1952 Nov 1;96(44):2752-6.
8
Visual defects in the deaf child.聋儿的视觉缺陷。
AMA Arch Ophthalmol. 1952 Oct;48(4):428-32. doi: 10.1001/archopht.1952.00920010437005.
9
Deafness and the Klippel-Feil syndrome.耳聋与克利佩尔-费尔综合征
J Laryngol Otol. 1969 Feb;83(2):175-84. doi: 10.1017/s0022215100070195.
10
Cervico-oculo-acoustic dysplasia. ("The syndrome of Wildervanck").
J Ment Defic Res. 1968 Dec;12(4):322-9.
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