Autosomal recessive acrorenal syndrome.
作者信息
Miltényi M, Czeizel A E, Balogh L, Detre Z
机构信息
Department of Pediatrics, Semmelweis Medical University, Budapest, Hungary.
出版信息
Am J Med Genet. 1992 Jul 15;43(5):789-90. doi: 10.1002/ajmg.1320430506.
PMID:1344975
Abstract
We describe two sibs with tetraectrodactyly and oligomeganephronic renal hypoplasia. The parents were unaffected. This syndrome of apparently autosomal recessive origin appears to be the first Mendelian form of the acrorenal developmental field defect identified so far.
摘要
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