Pallister-Killian mosaic syndrome with emphasis on the adult phenotype.
作者信息
Quarrell O W, Hamill M A, Hughes H E
机构信息
Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.
出版信息
Am J Med Genet. 1988 Dec;31(4):841-4. doi: 10.1002/ajmg.1320310417.
PMID:3239576
Abstract
We report on a 36-year-old man with profound mental retardation, "coarse" face, and epilepsy. Recognition of the adult phenotype of the Pallister-Killian mosaic syndrome was a prerequisite to directing the cytogenetic analysis.
摘要
Zotero 插件