家族性法洛四联症与青光眼。
Familial tetralogy of Fallot and glaucoma.
作者信息
Chen S C, D'Souza N
机构信息
Department of Pediatrics, St. Louis University School of Medicine, Missouri.
出版信息
Am J Med Genet. 1990 Sep;37(1):40-1. doi: 10.1002/ajmg.1320370111.
PMID:2240041
Abstract
All 3 daughters of a mother with glaucoma had a conotruncal abnormality of the heart and glaucoma. The presence of heart and eye anomaly may be coincidental; however, both may be related to abnormal development of neural crest. The pedigree suggests autosomal dominant inheritance in this family.
摘要
一位患有青光眼的母亲的三个女儿都患有心脏圆锥干异常和青光眼。心脏和眼睛异常可能是巧合；然而，两者都可能与神经嵴的异常发育有关。该谱系表明这个家族中存在常染色体显性遗传。
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