Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures''

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dc.contributor.authorLee, C.
dc.contributor.authorFu, H.
dc.contributor.authorBaratang, N.
dc.contributor.authorRousseau, J.
dc.contributor.authorKumra, H.
dc.contributor.authorSutton, V.
dc.contributor.authorNiceta, M.
dc.contributor.authorCiolfi, A.
dc.contributor.authorYamamoto, G.
dc.contributor.authorAracena Álvarez, Marcela
dc.contributor.authorBertola, D.
dc.contributor.authorMarcelis, C.
dc.contributor.authorLugtenberg, D.
dc.contributor.authorBartuli, A.
dc.contributor.authorKim, C.
dc.contributor.authorHoover-Fong, J.
dc.contributor.authorSobreira, N.
dc.contributor.authorPauli, R.|Bacino, C.
dc.contributor.authorKrakow, D.
dc.contributor.authorParboosingh, J.
dc.contributor.authorYap, P.
dc.contributor.authorKariminejad, A.
dc.contributor.authorMcDonald, M.
dc.contributor.authorLausch, E.
dc.contributor.authorUnger, S.
dc.contributor.authorSuperti-Furga, A.
dc.contributor.authorLu, J.
dc.contributor.authorCohn, D.
dc.contributor.authorTartaglia, M.
dc.contributor.authorLee, B.
dc.contributor.authorReinhardt, D.
dc.contributor.authorCampeau, P.
dc.date.accessioned2021-05-22T01:09:37Z
dc.date.available2021-05-22T01:09:37Z
dc.date.issued2017
dc.format.extent9 páginas
dc.fuente.origenConveris
dc.identifier.doi10.1016/j.ajhg.2017.09.019
dc.identifier.eissn1537-6605
dc.identifier.issn0002-9297
dc.identifier.urihttps://doi.org/10.1016/j.ajhg.2017.09.019
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/58695
dc.issue.numeroNo. 5
dc.language.isoen
dc.nota.accesoContenido parcial
dc.pagina.final823
dc.pagina.inicio815
dc.revistaAmerican Journal of Human Geneticses_ES
dc.rightsacceso restringido
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.subject.otherEnfermedades óseas - Géneticaes_ES
dc.subject.otherHueso y huesos - Patologíaes_ES
dc.subject.otherFracturas del huesoes_ES
dc.subject.otherCartílagoes_ES
dc.titleMutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures''es_ES
dc.typeartículo
dc.volumenVol. 101
sipa.codpersvinculados99831
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