[4例鲁宾斯坦-泰比综合征]
[Rubinstein-Taybi syndrome in 4 cases].
作者信息
Labenne M, Noir A, Amsallem D, Bertrand A M, Menget A, Burguet A
机构信息
Service de pédiatrie, CHU de Besançon, Besançon, France.
出版信息
Pediatrie. 1990;45(7-8):471-5.
PMID:2170923
Abstract
The authors report on 4 cases of Rubinstein-Taybi syndrome. The specific features of this clinical entity of unknown aetiology, are emphasized: mental retardation, characteristic faecies, broad thumbs and large toes; short stature and cryptorchidism are often associated.
摘要
作者报告了4例鲁宾斯坦-泰比综合征病例。强调了这种病因不明的临床实体的具体特征：智力迟钝、特殊面容、宽拇指和大脚趾；常伴有身材矮小和隐睾症。
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引用本文的文献
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Epigenetic mechanisms of Rubinstein-Taybi syndrome.鲁宾斯坦-泰比综合征的表观遗传机制
Neuromolecular Med. 2014 Mar;16(1):16-24. doi: 10.1007/s12017-013-8285-3. Epub 2014 Jan 1.
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