纽-科弗斯（脑-眼-面-骨骼）综合征：一例报告。
The Neu-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case.
作者信息
Silengo M C, Davi G, Bianco R, Biagioli M, Franceschini P, Cavallo M, Bussi G
出版信息
Clin Genet. 1984 Feb;25(2):201-4. doi: 10.1111/j.1399-0004.1984.tb00486.x.
Abstract
A newborn female with a phenotype intermediate between the Neu and the COFS syndromes is described. The hypothesis of the two conditions representing different degrees of severity of the same autosomal recessive mutation in the homozygote state is discussed.
摘要
本文描述了一名新生女婴，其表型介于Neu综合征和COFS综合征之间。文中讨论了一种假说，即这两种病症代表了纯合子状态下同一常染色体隐性突变的不同严重程度。
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引用本文的文献
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Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.患有原发性脑眼面骨骼综合征的曼尼托巴原住民亲属在柯凯恩综合征B组（CSB）基因中存在突变。
Am J Hum Genet. 2000 Apr;66(4):1221-8. doi: 10.1086/302867. Epub 2000 Mar 15.
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