1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family

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dc.contributor.authorLower, K.
dc.contributor.authorSolders, G.
dc.contributor.authorBondeson, M.
dc.contributor.authorNelson, J.
dc.contributor.authorBrun, A.
dc.contributor.authorCrawford, J.
dc.contributor.authorMalm, G.
dc.contributor.authorBorjeson, M.
dc.contributor.authorTurner, G.
dc.contributor.authorPartington, M.
dc.contributor.authorGecz, J.
dc.date.issued2004
dc.description.statementofresponsibilityKaren M Lower, Göran Solders, Marie-Louise Bondeson, John Nelson, Arne Brun, Joanna Crawford, Gunilla Malm, Mats Börjeson, Gillian Turner, Michael Partington and Jozef Gécz
dc.identifier.citationEuropean Journal of Human Genetics, 2004; 12(10):787-789
dc.identifier.doi10.1038/sj.ejhg.5201228
dc.identifier.issn1018-4813
dc.identifier.issn1476-5438
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]
dc.identifier.urihttp://hdl.handle.net/2440/7221
dc.language.isoen
dc.publisherNature Publishing Group
dc.source.urihttps://doi.org/10.1038/sj.ejhg.5201228
dc.subjectHumans
dc.subjectObesity
dc.subjectHypogonadism
dc.subjectSyndrome
dc.subjectArginine
dc.subjectPedigree
dc.subjectPoint Mutation
dc.subjectFemale
dc.subjectMale
dc.subjectX-Linked Intellectual Disability
dc.title1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family
dc.title.alternative1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family
dc.typeJournal article
pubs.publication-statusPublished

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