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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 |
Appears in Collections: | Articles (local / International) |
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