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International meeting on Wolf‐Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay
Author(s) -
Nevado Julián,
Ho Karen S.,
Zollino Marcella,
Blanco Raquel,
Cobaleda César,
Golzio Christelle,
BeaudryBellefeuille Isabelle,
Berrocoso Sarah,
Limeres Jacobo,
Barrúz Pilar,
SerranoMartín Candela,
Cafiero Concetta,
Málaga Ignacio,
Marangi Giuseppe,
CamposSánchez Elena,
MoriyónIglesias Tania,
Márquez Sorangui,
Markham Leah,
Twede Hope,
Lortz Amanda,
Olson Lenora,
Sheng Xiaoming,
Weng Cindy,
Wassman Edward Robert,
Newcomb Tara,
Wassman Edward Robert,
Carey John C.,
Battaglia Agatino,
LópezGranados Eduardo,
Douglas Damien,
Lapunzina Pablo
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61406
Subject(s) - nosology , theme (computing) , medicine , set (abstract data type) , psychiatry , psychology , computer science , programming language , operating system
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.