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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...
Tallennettuna:
| Päätekijät: | , , , |
|---|---|
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
2013
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| 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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