Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome

Spondylocarpotarsal synostosis syndrome (SCT) is a rare Mendelian disorder (OMIM #272460) characterized by prenatal vertebral fusion, scoliosis, short stature and carpal and tarsal synostosis. SCT is typically known as an autosomal recessive disease caused by variants in the FLNB gene. The genetic b...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Carapito, Raphael, Goldenberg, Alice, Paul, Nicodème, Pichot, Angélique, David, Albert, Hamel, Antoine, Dumant-Forest, Clémentine, Leroux, Julien, Ory, Benjamin, Isidor, Bertrand, Bahram, Seiamak
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5117933/
https://ncbi.nlm.nih.gov/pubmed/27381093
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.84
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