Mutations of GPR126 Are Responsible for Severe Arthrogryposis Multiplex Congenita

Arthrogryposis multiplex congenita is defined by the presence of contractures across two or more major joints and results from reduced or absent fetal movement. Here, we present three consanguineous families affected by lethal arthrogryposis multiplex congenita. By whole-exome or targeted exome sequ...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Ravenscroft, Gianina, Nolent, Flora, Rajagopalan, Sulekha, Meireles, Ana M., Paavola, Kevin J., Gaillard, Dominique, Alanio, Elisabeth, Buckland, Michael, Arbuckle, Susan, Krivanek, Michael, Maluenda, Jérome, Pannell, Stephen, Gooding, Rebecca, Ong, Royston W., Allcock, Richard J., Carvalho, Ellaine D.F., Carvalho, Maria D.F., Kok, Fernando, Talbot, William S., Melki, Judith, Laing, Nigel G.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4457946/
https://ncbi.nlm.nih.gov/pubmed/26004201
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.04.014
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