4.2 Article

International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay

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

  1. Instituto de Salud Carlos III (ISCIII) [FIS18/01433, PI-374]

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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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