[1] 张彩宁,王本臻,纪志娴,等.RAF1基因新生突变致LEOPARD综合征1例并文献复习[J].精准医学杂志,2019, 34(5):401-404.
[2] Cancado FH, Silva LC, Taitson PF, et al.Do you know this syndrome? Leopard syndrome[J].An Bras Dermatol,2017, 92(1):127-129.
[3] Zhang J, Shen J, Cheng R, et al.Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome[J].Molecular Medicine Reports,2016, 14(3PtB):2639-2643.
[4] 郭敏,李书聆,李锐洁,等.一个LEOPARD综合征小家系临床表型及遗传学特征分析[J].听力学及言语疾病杂志,2018, 26(4):358-361.
[5] Gorlin RJ, Anderson RC, Moller JH.The Leopard (multiple lentigines) syndrome revisited[J].Birth Defects Orig Artic Ser,1971, 7(4):110-115.
[6] Voron DA, Hatfield HH, Kalkhoff RK.Multiple lentigines syndrome.Case report and review of the literature[J].Am J Med.1976, 60(3):447-456.
[7] 余时娟.豹纹综合征研究进展[JB/OL].中华临床医师杂志(电子版),2017, 11(23):2458-2461.
[8] 康芷若,程国强,王来栓,等.基于新生儿期PTPN11基因相关Noonan综合征21例病例系列报告并文献复习提出的遗传筛查指征[J].中国循证儿科杂志,2020, 15(2):118-124.
[9] Alfurayh N, Alsaif F, Alballa N, et al.LEOPARD Syndrome with PTPN11 gene mutation in three family members presenting with different phenotypes[J].J Pediatr Genet,2020, 9(4):246-251.
[10] 余时娟,王华.LEOPARD综合征一例[J].中华皮肤科杂志,2018, 51(12):908.
[11] Ly KI, Blakeley JO.The diagnosis and management of neurofibromatosis type 1[J].Med Clin North Am,2019, 103(6):1035-1054.
[12] Duan SX, Wang GH, Zhong J, et al.Peutz-Jeghers syndrome with intermittent upper intestinal obstruction:A case report and review of the literature[J].Medicine (Baltimore),2017, 96(17):e6538.
[13] Shams S, Kyavar M, Sadeghipour P, et al.Carney complex syndrome[J].Cardiovasc Pathol,2020, 49:107231.
[14] 中华医学会医学遗传学分会遗传病临床实践指南撰写组.Noonan综合征的临床实践指南[J].中华医学遗传学杂志.2020, 37(3):324-328.
[15] Marin TM, Keith K, Davies B, et al.Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation[J].J Clin Invest,2011, 121(3):1026-1043. |
