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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...

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Detalles Bibliográficos
Autores principales: Yekula, Anudeep, Grant, Connor, Gupta, Mihir, Santiago-Dieppa, David R., Duddleston, Pate J., Gonda, David, Levy, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
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