TY - JOUR
T1 - International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay
AU - Zollino, Marcella
AU - Marangi, Giuseppe
AU - Nevado, Julián
AU - Ho, Karen S.
AU - Blanco, Raquel
AU - Cobaleda, César
AU - Golzio, Christelle
AU - Beaudry-Bellefeuille, Isabelle
AU - Berrocoso, Sarah
AU - Limeres, Jacobo
AU - Barrúz, Pilar
AU - Serrano-Martín, Candela
AU - Málaga, Ignacio
AU - Campos-Sánchez, Elena
AU - Moriyón-Iglesias, Tania
AU - Márquez, Sorangui
AU - Markham, Leah
AU - Twede, Hope
AU - Lortz, Amanda
AU - Olson, Lenora
AU - Sheng, Xiaoming
AU - Weng, Cindy
AU - Wassman, Edward Robert
AU - Newcomb, Tara
AU - Wassman, Edward Robert
AU - Carey, John C.
AU - Battaglia, Agatino
AU - López-Granados, Eduardo
AU - Douglas, Damien
AU - Lapunzina, Pablo
PY - 2020
Y1 - 2020
N2 - “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.
AB - “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.
KW - 4p-
KW - WHS
KW - antiepileptic drugs
KW - hepatoadenomas
KW - seizures
KW - 4p-
KW - WHS
KW - antiepileptic drugs
KW - hepatoadenomas
KW - seizures
UR - http://hdl.handle.net/10807/153445
U2 - 10.1002/ajmg.a.61406
DO - 10.1002/ajmg.a.61406
M3 - Article
VL - 182
SP - 257
EP - 267
JO - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
JF - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A
SN - 1552-4825
ER -