1. International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay
- Author
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Nevado, J., K. S., Ho, Zollino, Marcella, Blanco, R., Cobaleda, C., Golzio, C., Beaudry-Bellefeuille, I., Berrocoso, S., Limeres, J., Barruz, P., Serrano-Martin, C., Cafiero, C., Malaga, I., Marangi, Giuseppe, Campos-Sanchez, E., Moriyon-Iglesias, T., Marquez, S., Markham, L., Twede, H., Lortz, A., Olson, L., Sheng, X., Weng, C., Wassman, E. R., Newcomb, T., Carey, J. C., Battaglia, A., Lopez-Granados, E., Douglas, D., and Lapunzina, P.
- Subjects
0301 basic medicine ,Nosology ,medicine.medical_specialty ,hepatoadenomas ,030105 genetics & heredity ,4p ,Settore MED/03 - GENETICA MEDICA ,medicine.disease ,University hospital ,03 medical and health sciences ,030104 developmental biology ,antiepileptic drugs ,seizures ,WHS ,Family medicine ,Genetics ,medicine ,Psychology ,Wolf–Hirschhorn syndrome ,Genetics (clinical) ,Panel discussion ,Theme (narrative) - Abstract
"An International Meeting on Wolf-Hirschhorn Syndrome (WHS)" was held at The University Hospital La Paz in Madrid, Spain (October 13-14, 2017). One hundred and twenty-five people, including physicians, scientists and affected families, attended the meeting. Parent and patient advocates from the Spanish Association of WHS opened the meeting with a panel discussion to set the stage regarding their hopes and expectations for therapeutic advances. In keeping with the theme on therapeutic development, the sessions followed a progression from description of the phenotype and definition of therapeutic endpoints, to definition of genomic changes. These proceedings will review the major points of discussion.
- Published
- 2019
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