耳聋、甲-骨-发育不良、智力障碍（DOOR）综合征 - Suppr | 超能文献

Deafness, onycho-osteodystrophy, mental retardation (DOOR) syndrome.

作者信息

Nevin N C, Thomas P S, Calvert J, Reid M M

出版信息

Am J Med Genet. 1982 Nov;13(3):325-32. doi: 10.1002/ajmg.1320130316.

DOI:10.1002/ajmg.1320130316

Abstract

摘要

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Deafness, onycho-osteodystrophy, mental retardation (DOOR) syndrome.耳聋、甲-骨-发育不良、智力障碍（DOOR）综合征

Am J Med Genet. 1982 Nov;13(3):325-32. doi: 10.1002/ajmg.1320130316.

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DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.门综合征（耳聋、甲床骨发育不良和智力迟钝）：三名无亲缘关系患者的血浆和尿液中2-氧代戊二酸水平升高。

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Congenital sensori-neural deafness associated with onycho-osteo dystrophy and mental retardation (D.O.O.R. syndrome).先天性感音神经性耳聋伴甲-骨发育不良和智力障碍（D.O.O.R.综合征）。

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DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): a new patient and delineation of neurologic variability among recessive cases.DOOR综合征（耳聋、甲-骨发育不良和智力迟钝）：1例新患者及隐性病例神经功能变异性的描述

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[Familial deafness with osteo-onycho-dysplasia].[伴有骨-甲发育异常的家族性耳聋]

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A new case of DOOR syndrome.一例新的门综合征病例。

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Dyggve-Melchior-Clausen syndrome: genetic studies and report of affected sibs.

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New autosomal recessive syndrome of mental retardation, epilepsy, short stature, and skeletal dysplasia.智力发育迟缓、癫痫、身材矮小和骨骼发育异常的新型常染色体隐性综合征。

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Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: a new familial syndrome.异常的远端指骨和指甲、耳聋、智力迟钝和癫痫发作障碍：一种新的家族综合征。

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