A novel mutation in CELSR1 is associated with hereditary lymphedema

BACKGROUND: Biological evidence reported in the literature supports the role of CELSR1 as being essential for valvular function in murine lymphatics. Yet thus far, there have been no variants in CELSR1 associated with lymphatic dysfunction in humans. CASE PRESENTATION: In this report, a rare early i...

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Detalles Bibliográficos
Autores principales: Gonzalez-Garay, M. L., Aldrich, M. B., Rasmussen, J. C., Guilliod, R., Lapinski, P. E., King, P. D., Sevick-Muraca, E. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743364/
https://www.ncbi.nlm.nih.gov/pubmed/26855770
http://dx.doi.org/10.1186/s13221-016-0035-5

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