Unilateral radio-ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: a new syndrome.
作者信息
Der Kaloustian V M, McIntosh N, Silver K, Blaichman S, Halal F
机构信息
Department of Pediatrics, McGill University School of Medicine, McGill Centre for Human Genetics, Montreal, Quebec, Canada.
出版信息
Am J Med Genet. 1992 Aug 1;43(6):942-5. doi: 10.1002/ajmg.1320430607.
PMID:1384331
Abstract
We report on 2 sibs with generalized hypotonia, developmental retardation, unilateral radio-ulnar synostosis, and a characteristic facial appearance. We propose that they have a new autosomal recessive syndrome.
摘要
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