Autosomal dominant iridogoniodysgenesis with associated somatic anomalies: four-generation family with Rieger's syndrome.
AUTOR(ES)
Chisholm, I A
RESUMO
A family extending over 4 generations showed iridogoniodysgenesis accompanied by somatic malformations inherited in an autosomal dominant fashion. Iridogoniodysgenesis was present in 10 members, of whom 5 had established glaucoma; 4 youthful members are likely to develop glaucoma. Somatic malformations were present in 5 members from the 3rd and 4th generations who did not manifest iridogoniodysgenesis. A possible polygenic basis is discussed, though the variable expression of an autosomal dominant inheritance is still the more likely explanation.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1040113Documentos Relacionados
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