The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018)

Juliette Piard (1) , Lara Hawkes (2) , Mathieu Milh (3, 4) , Laurent Villard (3) , Renato Borgatti (5) , Romina Romaniello (5) , Melanie Fradin (6) , Yline Capri (7) , Delphine Heron (8) , Marie-Christine Nougues (9) , Caroline Nava (10) , Oana Tarta Arsene (11) , Debbie Shears (2) , John Taylor , Alistair Pagnamenta (12) , Jenny C. Taylor (12) , Yoshimi Sogawa (13) , Diana Johnson (14) , Helen Firth (14) , Pradeep Vasudevan (15) , Gabriela Jones (15) , Marie-Ange Nguyen-Morel (16) , Tiffany Busa (3) , Agathe Roubertie (17) , Myrthe van Den Born , Elise Brischoux-Boucher (1) , Michel Koenig (18, 17) , Cyril Mignot (10, 10) , Usha Kini (2) , Christophe Philippe (19, 20) , Ddd Study (21)

1 UFC - Université de Franche-Comté
2 Oxford University Hospitals NHS Trust
3 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
4 Service de Neurologie Pédiatrique
5 IRCCS Eugenio Medea
6 CLAD Ouest
7 Département de génétique [Robert Debré]
8 Institut de Myologie
9 Service de Neuropédiatrie [CHU Trousseau]
10 CHU Pitié-Salpêtrière [AP-HP]
11 UMPCD - University of Medicine and Pharmacy “Carol Davila” Bucharest
12 Oxford NIHR Biomedical Research Centre
13 Children's Hospital of Pittsburgh of UPMC [Etats-Unis]
14 Department of Clinical Genetics
15 University Hospitals Leicester
16 CHU de Grenoble-Alpes
17 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
18 LGMR - Laboratoire de génétique des maladies rares. Pathologie moleculaire, etudes fonctionnelles et banque de données génétiques
19 Plateau technique de Biologie [CHU de Dijon]
20 Equipe GAD (LNC - U1231)
21 The Wellcome Trust Sanger Institute [Cambridge]

Domains: Life Sciences [q-bio]; Genetics

Juliette Piard, Lara Hawkes, Mathieu Milh, Laurent Villard, Renato Borgatti, et al.. The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (vol 21, pg 1308, 2018). Genetics in Medicine, 2019, 21 (7), pp.1667. ⟨10.1038/s41436-019-0460-y⟩. ⟨hal-02461440⟩