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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Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Carapito, Raphael, Goldenberg, Alice, Paul, Nicodème, Pichot, Angélique, David, Albert, Hamel, Antoine, Dumant-Forest, Clémentine, Leroux, Julien, Ory, Benjamin, Isidor, Bertrand, Bahram, Seiamak
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2016
Konular:
Article
Online Erişim: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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