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Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

2014-06-01Journal article Restricted access
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dc.contributor.authorAggarwal, S.
dc.contributor.authorCoutinho, M.F.
dc.contributor.authorDalal, A.
dc.contributor.authorJain, S.J.
dc.contributor.authorPrata, M.J.
dc.contributor.authorAlves, S.
dc.date.accessioned2015-02-13T12:19:33Z
dc.date.available2015-02-13T12:19:33Z
dc.date.issued2014-06-01
dc.description.abstractWe report a neonate who was diagnosed as a case of skeletal dysplasia during pregnancy, and was subsequently diagnosed as a case of MLII alpha/beta on the basis of clinical and radiological findings and molecular testing of the parents. A novel GNPTAB mutation c.1701delC [p.F566LfsX5] was identified in the father. The case reiterates the severe prenatal phenotype of MLII alpha/beta which mimics skeletal dysplasia and illustrates the utility of molecular genetic analysis in confirmation of diagnosis and subsequent genetic counselling.por
dc.description.sponsorshipThis work was supported by FCT — project PIC/IC/83252/2007(http://alfa.fct.mctes.pt/). Coutinho MF is a grantee from the FCT (SFRH/BD/48103/2008).por
dc.identifier.citationGene. 2014 Jun 1;542(2):266-8. doi: 10.1016/j.gene.2014.03.053. Epub 2014 Mar 28por
dc.identifier.doi10.1016/j.gene.2014.03.053
dc.identifier.issn0378-1119
dc.identifier.urihttp://hdl.handle.net/10400.18/2851
dc.language.isoengpor
dc.peerreviewedyespor
dc.publisherElsevierpor
dc.relationPIC/IC/83252/2007-FCTpor
dc.relation.publisherversionhttp://www.sciencedirect.com/science/article/pii/S0378111914003916por
dc.subjectDoenças Genéticaspor
dc.subjectGenética Humanapor
dc.subjectGNPTABpor
dc.subjectMolecular Characterizationpor
dc.subjectMucolipidosis Type II alpha/betapor
dc.subjectSkeletal Dysplasiapor
dc.titlePrenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutationpor
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage268por
oaire.citation.startPage266por
oaire.citation.titleGenepor
oaire.citation.volume542(2)por
rcaap.rightsrestrictedAccesspor
rcaap.typearticlepor

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