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  3. School of Paediatrics & Reproductive Health
  4. Paediatrics
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Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/32923
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dc.contributor.authorVillard, L.-
dc.contributor.authorFontes, M.-
dc.contributor.authorAdes, L.-
dc.contributor.authorGecz, J.-
dc.date.issued2000-
dc.identifier.citationAmerican Journal of Medical Genetics Part A, 2000; 91(1):83-85-
dc.identifier.issn1552-4825-
dc.identifier.issn1552-4833-
dc.identifier.urihttp://hdl.handle.net/2440/32923-
dc.descriptionLetter to the Editor-
dc.description.statementofresponsibilityLaurent Villard, Michel Fontès, Lesley C. Adès, Jozef Gecz-
dc.language.isoen-
dc.publisherWiley-Liss-
dc.rights© 2000 Wiley-Liss, Inc.-
dc.source.urihttp://dx.doi.org/10.1002/(sici)1096-8628(20000306)91:1%3C83::aid-ajmg15%3E3.0.co;2-n-
dc.subjectFace-
dc.subjectHumans-
dc.subjectMicrocephaly-
dc.subjectAbnormalities, Multiple-
dc.subjectSyndrome-
dc.subjectDNA Helicases-
dc.subjectNuclear Proteins-
dc.subjectDNA-
dc.subjectPedigree-
dc.subjectDNA Mutational Analysis-
dc.subjectSequence Deletion-
dc.subjectBase Sequence-
dc.subjectSequence Homology, Nucleic Acid-
dc.subjectMutation-
dc.subjectFrameshift Mutation-
dc.subjectPoint Mutation-
dc.subjectFamily Health-
dc.subjectFemale-
dc.subjectMale-
dc.subjectIntellectual Disability-
dc.titleIdentification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome-
dc.typeJournal article-
dc.identifier.doi10.1002/(SICI)1096-8628(20000306)91:1<83::AID-AJMG15>3.3.CO;2-E-
pubs.publication-statusPublished-
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]-
Appears in Collections:Aurora harvest
Paediatrics publications

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