Meckel Gruber syndrome: a single gene cause of recurrent neural tube defects

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dc.contributor.authorde Silva, D.en_US
dc.contributor.authorSuriyawansa, D.en_US
dc.contributor.authorMangalika, M.en_US
dc.contributor.authorSamarasinghe, D.en_US
dc.creator.corporateauthorSri Lanka Medical Associationen_US
dc.date.accessioned2014-10-29T09:19:02Z
dc.date.available2014-10-29T09:19:02Z
dc.date.issued2001en_US
dc.description.abstractMeckel Gruber syndrome (MGS), an autosomal recessive disorder characterised by posterior encephalocoele, multicystic kidneys and post-axial polydactyly should be recognised by obstetricians and paediatricians to counsel parents regarding the 25% recurrence risk. We report a consanguineous family with MGS affecting three infants.
dc.description.noteComment: in Prenatal diagnosis of lethal congenital malformations in Sri Lanka. [Ceylon Med J. 2001]
dc.identifier.citationThe Ceylon Medical Journal; 46(1): pp.30en_US
dc.identifier.departmentPaediatricsen_US
dc.identifier.issn0009-0875 (Print)en_US
dc.identifier.urihttp://repository.kln.ac.lk/handle/123456789/1470
dc.publisherSri Lanka Medical Associationen_US
dc.titleMeckel Gruber syndrome: a single gene cause of recurrent neural tube defectsen_US
dc.typeLetteren_US

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