| 1. |
Oliver GL, McFarlane DC. Congenital trichomegaly: with associated pigmentary degeneration of the retina, dwarfism, and mental retardation[J]. Arch Ophthalmol, 1965, 74: 169-171. DOI: 10.1001/archopht.1965.00970040171008.
|
| 2. |
盛迅伦, 张爽 , 李慧萍, 等. Oliver-McFarlane综合征一例[J]. 中华眼科杂志, 2014, 50(8): 612-614. DOI: 10.3760/cma.j.issn.0412-4081.2014.08.013.Sheng XL, Zhang S, Li HP, et al. A case of Oliver-McFarlane syndrome[J]. Chin J Ophthalmol, 2014, 50(8): 612-614. DOI: 10.3760/cma.j.issn.0412-4081.2014.08.013.
|
| 3. |
石婕, 张昕, 许可, 等. PNPLA6基因变异导致的Oliver-McFarlane综合征1例[J]. 中华眼科杂志, 2023, 59(6): 484-487. DOI: 10.3760/cma.j.cn112142-20220627-00316.Shi J, Zhang X, Xu K, et al. A case of Oliver-McFarlane syndrome caused by PNPLA6 gene mutation[J]. Chin J Ophthalmol, 2023, 59(6): 484-487. DOI: 10.3760/cma.j.cn112142-20220627-00316.
|
| 4. |
Wu S, Sun Z, Zhu T, et al. Novel variants in PNPLA6causing syndromic retinal dystrophyil[J/OL]. Exp Eye Res, 2021, 202: 108327[2020-10-22]. https://pubmed.ncbi.nlm.nih.gov/33141049/. DO1: 10.1016/j.exer:2020.108327.
|
| 5. |
Winrow CJ, Hemming ML, Allen DM, et al. Loss of neuropathy target esterase in mice links organophosphate exposure to hyperactivity[J]. Nat Genet, 2003, 33(4): 477-485. DO1: 10.1038/ng1131.
|
| 6. |
Hufnagel RB, Arno G, Hein ND, et al. Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes[J]. J Med Genet, 2015, 52(2): 85-94. DO1: 10.1136/jmedgenet-2014-102856.
|
| 7. |
Synofzik M, Gonzalez MA, Lourenco CM, et al. PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum[J]. Brain, 2014, 137(Pt 1): 69-77. DO1: 10.1093/brain/awt326.
|
| 8. |
Rainier S, Bui M, Mark E, et al. Neuropathy target esterase gene mutations cause motor neuron disease[J]. Am J Hum Genet, 2008, 82(3): 780-785. DO1: 10.1016/j. ajhg. 2007.12. 018.
|
| 9. |
邹宸, 王敏. PNPLA6基因突变相关Boucher-Neuhäuser综合征一例[J]. 中华眼底病杂志, 2021, 37(8): 634-636. DOI: 10.3760/cma.j.cn511434-20201207-00609.Zou C, Wang M. A case of Boucher-Neuhauser syndrome related to PNPLA6 gene mutation[J]. Chin J Ocul Fundus Dis, 2021, 37(8): 634-636. DOI: 10.3760/cma.j.cn511434-20201207-00609.
|
| 10. |
Lisbjerg K, Andersen MKG, Bertelsen M, et al. Oliver McFarlane syndrome: two new cases and a review of the literature[J]. Ophthalmic Genet, 2021, 42(4): 464-473. DO1: 10.1080/13816810.2021. 1904419.
|
| 11. |
Patsi O, De Beaufort C, Kerschen P, et al. A new PNPLA6 mutation presenting as Oliver McFarlane syndrome[J]. J Neurol Sci, 2018, 392: 1-2. DO1: 10.1016/j. jns. 2018.06. 016.
|
| 12. |
Liu F, Ji Y, Li G, et al. Identification of Oliver-McFarlane syndrome caused by novel compound heterozygous variants of PNPLA6[J/OL]. Gene, 2020, 761: 145027[2020-11-30]. https://pubmed.ncbi.nlm.nih.gov/32758583/. DO1: 10.1016/j.gene.2020.145027.
|
