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

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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I publikationen:Am J Hum Genet
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2018
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC5992117/
https://ncbi.nlm.nih.gov/pubmed/29805041
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.04.008
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