Mutations in the MESP2 Gene Cause Spondylothoracic Dysostosis/Jarcho-Levin Syndrome

Spondylothoracic dysostosis (STD), also known as Jarcho-Levin syndrome (JLS), is an autosomal-recessive disorder characterized by abnormal vertebral segmentation and defects affecting spine formation, with complete bilateral fusion of the ribs at the costovertebral junction producing a “crab-like” c...

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Autores principales: Cornier, Alberto S., Staehling-Hampton, Karen, Delventhal, Kym M., Saga, Yumiko, Caubet, Jean-Francois, Sasaki, Nobuo, Ellard, Sian, Young, Elizabeth, Ramirez, Norman, Carlo, Simon E., Torres, Jose, Emans, John B., Turnpenny, Peter D., Pourquié, Olivier
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2008
Materias:
Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427230/
https://ncbi.nlm.nih.gov/pubmed/18485326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.04.014
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