[1] 杨保胜.遗传病分子生物学[M].北京:科学出版社,2012:1-13.
[2] 顾鸣敏.人类遗传性疾病基因诊断的回顾与展望[J].诊断学理论与实践,2010,9(5):420-423.
[3] Michelson DJ,Shevell MI,Sherr EH,et.al.Evidence Report:Genetic and metabolic testing on children with global developmental delay:Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society[J].Neurology,2011,77(17):1629-35.
[4] Cho SY and Jin DK.Guidelines for genetic skeletal dysplasias for pediatricians[J].Ann Pediatr Endocrinol Metab,2015,20:187-191.
[5] Romero CJ,Mehta L,Rapaport R.Genetic techniques in the evaluation of short stature[J].Endocrinol Metab Clin N Am,2016,45:345-358.
[6] Dewey FE,Grove ME,Pan C,et al.Clinical interpretation and implications of whole-genome sequencing[J].JAMA,2014,311(10):1035-1045.
[7] KhouryMJ,EvansJP.A public health perspective on a national precision medicine cohort balancing long-term knowledge generation with early health benefit[J].JAMA,2015,313(21):2117-2118.
[8] Hirschhorn JN,Lettre G.Progress in genome-wide association studies of human height[J].Horm Res,2009,71(suppl 2):5-13.
[9] Seaver LH,Irons M.ACMG practice guideline:genetic evaluationof short stature[J].Genet Med,2009,11:465-470.
[10] 中华医学会儿科学分会内分泌遗传代谢学组,《中华儿科杂志》编辑委员会.中国Prader-Willi综合征诊治专家共识(2015)[J].中华儿科杂志,2015,53(6):419-424.
[11] Dauber A,Rosenfeld RG,Hirschhorn JN.Genetic Evaluation of Short Stature[J].J Clin Endocrinol Metab,2014,99:3080-3092.
[12] Eggermann T,Buiting Kan,Temple IK.Clinical utility gene card for:Silver-Russell syndrome[J].Eur J Hum Genet,2011,19:e1-3.
[13] 刘晓亮,傅立军.Noonan综合征的诊治进展.临床儿科杂志,2016,34(1):64-67.