Report of a new case of "genitopatellar" syndrome which challenges the importance of absent patellae as a defining feature

被引:14
作者
Armstrong, L
Clarke, JTR
机构
[1] Childrens Hosp Eastern Ontario, Dept Med Genet, Ottawa, ON K1H 8L1, Canada
[2] Univ Toronto, Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada
关键词
D O I
10.1136/jmg.39.12.933
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:933 / 934
页数:2
相关论文
共 2 条
[1]   Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation [J].
Cormier-Daire, V ;
Chauvet, ML ;
Lyonnet, S ;
Briard, ML ;
Munnich, A ;
Le Merrer, M .
JOURNAL OF MEDICAL GENETICS, 2000, 37 (07) :520-524
[2]  
Goldberg C. H., 1988, Complex Systems, V2, P91