Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/32923
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dc.contributor.authorVillard, L.en
dc.contributor.authorFontes, M.en
dc.contributor.authorAdes, L.en
dc.contributor.authorGecz, J.en
dc.date.issued2000en
dc.identifier.citationAmerican Journal of Medical Genetics. Part A, 2000; 91(1):83-85en
dc.identifier.issn1552-4825en
dc.identifier.issn1552-4833en
dc.identifier.urihttp://hdl.handle.net/2440/32923-
dc.descriptionLetter to the Editoren
dc.description.statementofresponsibilityLaurent Villard, Michel Fontès, Lesley C. Adès, Jozef Geczen
dc.language.isoenen
dc.publisherWiley-Lissen
dc.rights© 2000 Wiley-Liss, Inc.en
dc.subjectFace; Humans; Microcephaly; Abnormalities, Multiple; Syndrome; DNA Helicases; Nuclear Proteins; DNA; Pedigree; DNA Mutational Analysis; Sequence Deletion; Base Sequence; Sequence Homology, Nucleic Acid; Mutation; Frameshift Mutation; Point Mutation; Family Health; Female; Male; Intellectual Disabilityen
dc.titleIdentification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndromeen
dc.typeJournal articleen
dc.identifier.rmid0001003042en
dc.identifier.doi10.1002/(SICI)1096-8628(20000306)91:1<83::AID-AJMG15>3.3.CO;2-Een
dc.identifier.pubid62387-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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