X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family

W. M. Kang, Chao-Ching Huang, S. J. Lin

研究成果: Article

7 引文 斯高帕斯(Scopus)

摘要

This report describes a new syndrome of dysgenesis of corpus callosum with other anomalies, presenting as microcephaly, mental retardation, spasticity, and unusual facial appearance in 2 Chinese brothers and their maternal cousins. To date, there has not been any case reported in the Chinese population of this syndrome. All 4 patients in this report present with the same unusual face. Hydrocephalus and/or interhemispheric cyst were found among them. This syndrome is transmitted as an X-linked trait. The nosology is reviewed and discussed.

原文English
頁(從 - 到)619-623
頁數5
期刊American Journal of Medical Genetics
44
發行號5
DOIs
出版狀態Published - 1992 十一月 23

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

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