:ITHACA

Mirthe J Klein Haneveld1, Michiel S Oerbekke2, Katalin Szakszon3

  • 1Amsterdam UMC, University of Amsterdam, Emma Children's Hospital, Amsterdam Reproduction & Development, Amsterdam Public Health, Meibergdreef 9, PO Box 22660, Amsterdam 1100 DD, The Netherlands; European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Clinical Genetics Department, Robert Debré University Hospital, 48 Boulevard Serurier, Paris 75935, France.

概括

为罕见的遗传神经发育障碍制定临床实践指南 (CPG) 需要利益相关者的意见来优先考虑努力. 关键标准包括缺乏现有指导,高患者负担和CPG开发的特定健康风险.