Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome.
作者信息
Legius E, Fryns J P, Van den Berghe H
机构信息
Department of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.
出版信息
Clin Genet. 1990 May;37(5):347-50. doi: 10.1111/j.1399-0004.1990.tb03517.x.
Abstract
A father and son are described with an autosomal dominant branchial cleft syndrome resembling both the branchio-oto-renal and the branchio-oculo-facial syndrome. Both syndromes may represent variant expressions of the same autosomal dominant gene.
摘要
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