Genitopatellar syndrome: a recognizable phenotype.
作者信息
Reardon William
机构信息
National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
出版信息
Am J Med Genet. 2002 Aug 15;111(3):313-5. doi: 10.1002/ajmg.10590.
PMID:12210329
Abstract
Genitopatellar syndrome is a newly described condition, subject of a single literature report to date. The condition comprises absent patellae, genital and renal malformations, joint dislocation, and mental retardation. Recurrence has been recorded in two kindreds, consistent with autosomal recessive inheritance.
摘要
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