期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 182, 期 1, 页码 257-267出版社
WILEY
DOI: 10.1002/ajmg.a.61406
关键词
4p-; antiepileptic drugs; hepatoadenomas; seizures; WHS
资金
- Instituto de Salud Carlos III (ISCIII) [FIS18/01433, PI-374]
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.
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