癫痫、痴呆和牙釉质发育不全综合征：遗传学和临床特征
A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features.
作者信息
Christodoulou J, Hall R K, Menahem S, Hopkins I J, Rogers J G
机构信息
Department of Genetics, Royal Children's Hospital, Parkville, Victoria, Australia.
出版信息
J Med Genet. 1988 Dec;25(12):827-30. doi: 10.1136/jmg.25.12.827.
Abstract
A family is described with six members affected by a syndrome of epilepsy, dementia, and amelogenesis imperfecta (Kohlschütter's syndrome). An autosomal recessive pattern of inheritance is established for this disorder.
摘要
本文描述了一个有六名成员的家庭，他们患有癫痫、痴呆和牙釉质发育不全综合征（科尔施许特综合征）。已确定该疾病为常染色体隐性遗传模式。
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