Please use this identifier to cite or link to this item: http://archive.cmb.ac.lk:8080/xmlui/handle/70130/5975
Title: Meckel Gruber syndrome: occurrence in non-consanguineous marriages
Authors: Senanayake, H
De Silva, M V
Siriwardana, K D
Issue Date: 2004
Publisher: The Sri Lanka Medical Association
Citation: de Silva, M. V. C., Siriwardana, K. D. V. P., & Senanayake, H. (2004). Meckel Gruber syndrome: occurrence in non-consanguineous marriages.
Abstract: Meckel Gruber syndrome is an uncommon, lethal, autosomal recessive disorder, associated consistently with polycystic kidneys, posterior encephalocoele and polydactly. We report three cases in non-consanguineous marriages, suggesting that the single gene defect occurs more commonly in non-consanguineous marriages than mutant genes associated with other autosomal recessive disorders that are usually related with consanguineous marriages. The usefulness of prenatal diagnosis is discussed.
URI: http://archive.cmb.ac.lk:8080/xmlui/handle/70130/5975
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