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The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans

Craniosynostosis is characterized by the premature fusion and ossification of one or more of the sutures of the calvaria, often resulting in abnormal features of the face and the skull. In cases in which growth of the brain supersedes available space within the skull, developmental delay or cognitiv...

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Detalles Bibliográficos
Autores principales: Ahmad, Ilyas, Lokau, Juliane, Kespohl, Birte, Malik, Naveed Altaf, Baig, Shahid Mahmood, Hartig, Roland, Behme, Daniel, Schwab, Roland, Altmüller, Janine, Jameel, Muhammad, Mucha, Sören, Thiele, Holger, Tariq, Muhammad, Nürnberg, Peter, Erdmann, Jeanette, Garbers, Christoph
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10439179/
https://www.ncbi.nlm.nih.gov/pubmed/37596289
http://dx.doi.org/10.1038/s41598-023-39466-y