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Clinical and genetic characterization of patients with Pierre Robin sequence and spinal disease: review of the literature and novel terminal 10q deletion
INTRODUCTION: The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal pathologies have rarely been reported with PRS. METHODS: We explore the molecular genetic basis of this association through a...
Autores principales: | Yekula, Anudeep, Grant, Connor, Gupta, Mihir, Santiago-Dieppa, David R., Duddleston, Pate J., Gonda, David, Levy, Michael |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7300078/ https://www.ncbi.nlm.nih.gov/pubmed/32399800 http://dx.doi.org/10.1007/s00381-020-04642-2 |
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