Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
EXTL3基因突变导致神经免疫骨骼发育不良综合征
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2017.01.013
Machteld M Oud ,Paul Tuijnenburg ,Maja Hempel ,Naomi van Vlies ,Zemin Ren ,Sacha Ferdinandusse ,Machiel H Jansen ,René Santer ,Jessika Johannsen ,Chiara Bacchelli ,Marielle Alders ,Rui Li ,Rosalind Davies ,Lucie Dupuis ,Catherine M Cale ,Ronald J A Wanders ,Steven T Pals ,Louise Ocaka ,Chela James ,Ingo Müller ,Kai Lehmberg ,Tim Strom ,Hartmut Engels ,Hywel J Williams ,Phil Beales ,Ronald Roepman ,Patricia Dias ,Han G Brunner ,Jan-Maarten Cobben ,Christine Hall ,Taila Hartley ,Polona Le Quesne Stabej ,Roberto Mendoza-Londono ,E Graham Davies ,Sérgio B de Sousa ,Davor Lessel ,Heleen H Arts ,Taco W Kuijpers