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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Bibliografiset tiedot
Julkaisussa:Am J Hum Genet
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2015
Aiheet:
Report
Linkit: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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