轻度布-德二氏综合征：表型随年龄的变化
Mild Brachmann-de Lange syndrome: changes of phenotype with age.
作者信息
Greenberg F, Robinson L K
机构信息
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas.
出版信息
Am J Med Genet. 1989 Jan;32(1):90-2. doi: 10.1002/ajmg.1320320119.
PMID:2705489
Abstract
We present a girl with mild manifestations of the Brachmann-de Lange syndrome (BDLS) with gradual change of the phenotype. Her findings support the hypothesis of variability of the phenotypic spectrum of the disorder.
摘要
我们报告了一名患有轻度 Brachmann-de Lange 综合征（BDLS）且表型逐渐变化的女孩。她的发现支持了该疾病表型谱存在变异性的假说。
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