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Talocalcaneal Coalition in Muenke Syndrome: Report of a patient, review of the literature in FGFR-related craniosynostoses, and consideration of mechanism

Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the FGFR3 gene. Muenke syndrome is characterized by coronal craniosynostosis (bilateral more often than unilateral), hearing loss, developmental delay and carpal and/or tarsal bone coalitio...

Täydet tiedot

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Bibliografiset tiedot
Päätekijät: Agochukwu, Nneamaka B., Solomon, Benjamin D., Benson, Laurel J., Muenke, Maximilian
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 2013
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3581720/
https://ncbi.nlm.nih.gov/pubmed/23378035
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35233
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