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

W. M. Kang, C. C. Huang, S. J. Lin

研究成果: 雜誌貢獻文章同行評審

8 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.

原文英語
頁(從 - 到)619-623
頁數5
期刊American Journal of Medical Genetics
44
發行號5
DOIs
出版狀態已發佈 - 1992
對外發佈

ASJC Scopus subject areas

  • 遺傳學(臨床)

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