Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

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Spondylocarpotarsal synostosis syndrome (SCTS) is characterized by intervertebral fusions and fusion of the carpal and tarsal bones. Biallelic mutations in FLNB cause this condition in some families, whereas monoallelic variants in MYH3, encoding embryonic heavy chain myosin 3, have been implicated...

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Detaylı Bibliyografya
Asıl Yazarlar: Cameron-Christie, Sophia R., Wells, Constance F., Simon, Marleen, Wessels, Marja, Tang, Candy Z.N., Wei, Wenhua, Takei, Riku, Aarts-Tesselaar, Coranne, Sandaradura, Sarah, Sillence, David O., Cordier, Marie-Pierre, Veenstra-Knol, Hermine E., Cassina, Matteo, Ludkig, Kathrin, Trevisson, Eva, Bahlo, Melanie, Markie, David M., Jenkins, Zandra A., Robertson, Stephen P.
Materyal Türü: Metin
Dil:İngilizce
Baskı/Yayın Bilgisi: Elsevier 2018
Konular:
Article
Online Erişim:https://pmc.ncbi.nlm.nih.gov/articles/PMC5992117/
https://pubmed.ncbi.nlm.nih.gov/29805041
http://dx.doi.org/10.1016/j.ajhg.2018.04.008
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Internet

https://pmc.ncbi.nlm.nih.gov/articles/PMC5992117/
https://pubmed.ncbi.nlm.nih.gov/29805041
http://dx.doi.org/10.1016/j.ajhg.2018.04.008

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