里格尔眼畸形的遗传异质性。
Genetic heterogeneity in Rieger eye malformation.
作者信息
Legius E, de Die-Smulders C E, Verbraak F, Habex H, Decorte R, Marynen P, Fryns J P, Cassiman J J
机构信息
Department of Clinical Genetics, Maastricht, The Netherlands.
出版信息
J Med Genet. 1994 Apr;31(4):340-1. doi: 10.1136/jmg.31.4.340.
Abstract
A three generation family with Rieger eye malformation sequence is described. No other abnormalities were present apart from the eye malformation. Linkage to EGF and D4S193 localised in 4q25 was excluded and this indicates that Rieger eye malformation is genetically different from typical Rieger syndrome with teeth and umbilical anomalies.
摘要
本文描述了一个患有里格尔眼畸形序列的三代家族。除眼部畸形外，未发现其他异常。排除了与位于4q25的表皮生长因子（EGF）和D4S193的连锁关系，这表明里格尔眼畸形在遗传上与伴有牙齿和脐部异常的典型里格尔综合征不同。
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