Titre:
  • A clinical scoring system for congenital contractural arachnodactyly.
Auteur:Meerschaut, Ilse; De Coninck, Shana; Steyaert, Wouter; Barnicoat, Angela; Bayat, Allan; Benedicenti, Francesco; Berland, Siren; Blair, Edward M; Breckpot, Jeroen; de Burca, Anna; Destrée, Anne; García-Miñaúr, Sixto; Green, Andrew J; Hanna, Bernadette C; Keymolen, Kathelijn; Koopmans, Marije; Lederer, Damien; Lees, Melissa; Longman, Cheryl; Lynch, Sally Ann; Male, Alison M; McKenzie, Fiona; Migeotte, Isabelle; Mihci, Ercan; Nur, Banu; Petit, Florence; Piard, Juliette; Plasschaert, Frank FS; Rauch, Anita; Ribai A Nyam, Pascale; Pacheco, Iratxe Salcedo; Stanzial, Franco; Stolte-Dijkstra, Irene; Valenzuela, Irene; Varghese, Vinod; Vasudevan, Pradeep C; Wakeling, Emma L; Wallgren-Pettersson, Carina; Coucke, Paul; De Paepe, Anne; De Wolf, Daniël; Symoens, Sofie; Callewaert, Bert
Informations sur la publication:Genetics in medicine
Statut de publication:Publié, 2019-07-01
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Beals syndrome
clinical score
congenital contractural arachnodactyly
diagnostic criteria
fibrillin-2
Langue:Anglais
Identificateurs:urn:issn:1098-3600
info:doi/10.1038/s41436-019-0609-8
info:pii/10.1038/s41436-019-0609-8
info:pmid/31316167