Report of a case and further delineation of the SHORT syndrome.
作者信息
Toriello H V, Wakefield S, Komar K, Higgins J V, Waterman D F
出版信息
Am J Med Genet. 1985 Oct;22(2):311-4. doi: 10.1002/ajmg.1320220214.
PMID:4050863
Abstract
We describe a boy with the manifestations of the SHORT syndrome: lipoatrophy, delayed speech development, minor facial anomalies, clinodactyly, and short stature. In addition, this boy had deafness, which was not previously reported in the SHORT syndrome.
摘要
Zotero 插件