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DC Field | Value | Language |
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dc.contributor.author | Senanayake, H | - |
dc.contributor.author | De Silva, M V | - |
dc.contributor.author | Siriwardana, K D | - |
dc.date.accessioned | 2021-09-17T08:18:38Z | - |
dc.date.available | 2021-09-17T08:18:38Z | - |
dc.date.issued | 2004 | - |
dc.identifier.citation | de Silva, M. V. C., Siriwardana, K. D. V. P., & Senanayake, H. (2004). Meckel Gruber syndrome: occurrence in non-consanguineous marriages. | en_US |
dc.identifier.uri | http://archive.cmb.ac.lk:8080/xmlui/handle/70130/5975 | - |
dc.description.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. | en_US |
dc.language.iso | en | en_US |
dc.publisher | The Sri Lanka Medical Association | en_US |
dc.title | Meckel Gruber syndrome: occurrence in non-consanguineous marriages | en_US |
dc.type | Article | en_US |
Appears in Collections: | Articles (local / International) |
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