Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
dc.contributor.author | McMillin, Margaret J. | |
dc.contributor.author | Beck, Anita E. | |
dc.contributor.author | Chong, Jessica X. | |
dc.contributor.author | Shively, Kathryn M. | |
dc.contributor.author | Buckingham, Kati J. | |
dc.contributor.author | Gildersleeve, Heidi I.S. | |
dc.contributor.author | Aracena Álvarez, Mariana Inés | |
dc.contributor.author | Aylsworth, Arthur S. | |
dc.contributor.author | Bitoun, Pierre | |
dc.contributor.author | Carey, John C. | |
dc.date.accessioned | 2020-10-02T01:25:34Z | |
dc.date.available | 2020-10-02T01:25:34Z | |
dc.date.issued | 2014 | |
dc.format.extent | 11 páginas | |
dc.fuente.origen | Converis | |
dc.identifier.doi | 10.1016/j.ajhg.2014.03.015 | |
dc.identifier.issn | 0002-9297 | |
dc.identifier.issn | 1537-6605 | |
dc.identifier.uri | https://doi.org/10.1016/j.ajhg.2014.03.015 | |
dc.identifier.uri | https://repositorio.uc.cl/handle/11534/46847 | |
dc.identifier.wosid | WOS:000335485700007 | |
dc.issue.numero | No. 5 | |
dc.language.iso | en | |
dc.nota.acceso | Contenido completo | |
dc.pagina.final | 744 | |
dc.pagina.inicio | 734 | |
dc.revista | American Journal of Human Genetics | es_ES |
dc.rights | acceso abierto | |
dc.subject.ods | 03 Good health and well-being | |
dc.subject.odspa | 03 Salud y bienestar | |
dc.title | Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5 | es_ES |
dc.type | artículo | |
dc.volumen | Vol. 94 | |
sipa.codpersvinculados | 99831 |
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