[9]De FrancoE, FlanaganSE, HoughtonJA, et al. The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study[J]. Lancet, 2015，386(9997)：957-963. DOI: 10.1016/S0140-6736(15)60098-8.[10]MaaroufiM, ChoquetR, LandaisP, et al. Towards data integration automation for the French rare disease registry[J]. AMIA Annu Symp Proc, 2015，2015：880-885.[11]RoyAJ, Van den BerghP, Van DammeP, et al. Early stages of building a rare disease registry, methods and 2010 data from the Belgian Neuromuscular Disease Registry(BNMDR)[J]. Acta Neurol Belg, 2015，115(2)：97-104. DOI: 10.1007/s13760-014-0320-0.[12]LauCT, KanA, ShekN, et al. Is congenital pulmonary airway malformation really a rare disease? Result of a prospective registry with universal antenatal screening program[J]. Pediatr Surg Int, 2016, DOI: 10.1007/s00383-016-3991-1.[13]TattersfieldAE, GlassbergMK. Lymphangioleiomyomatosis: a national registry for a rare disease[J]. Am J Respir Crit Care Med, 2006，173(1)：2-4. DOI: 10.1164/rccm.2509010.[14]NagelG, UnalH, RosenbohmA, et al. Implementation of a population-based epidemiological rare disease registry: study protocol of the amyotrophic lateral sclerosis(ALS)—registry Swabia[J]. BMC Neurol, 2013，13：22. DOI: 10.1186/1471-2377-13-22.[15]Bj?rklundP, PacakK, CronaJ. Precision medicine in pheochromo-cytoma and paraganglioma: current and future concepts[J]. J Intern Med, 2016，280(6)：559-573. DOI: 10.1111/joim.12507.[16]N?ltingS, GrossmanAB. Signaling pathways in pheochromocytomas and paragangliomas: prospects for future therapies[J]. Endocr Pathol, 2012，23(1)：21-33. DOI: 10.1007/s12022-012-9199-6.[17]Castro-VegaLJ, LetouzéE, BurnichonN, et al. Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas[J]. Nat Commun, 2015，6：6044. DOI: 10.1038/ncomms7044.[18]MolineJ, EngC. Multiple endocrine neoplasia type 2: an overview[J]. Genet Med, 2011，13(9)：755-764. DOI: 10.1097/GIM.0b013e318216cc6d.[19]Krampit
