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

Wolf-Hirschhorn Spain's Working Group

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)257-267
Number of pages11
JournalAmerican Journal of Medical Genetics, Part A
Volume182
Issue number1
DOIs
Publication statusPublished - Dec 19 2019

Keywords

  • 4p-
  • antiepileptic drugs
  • hepatoadenomas
  • seizures
  • WHS

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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