| 1. |
Bosch DG, Boonstra FN, Gonzaga-Jauregui C, et al. Nr2f1 mutations cause optic atrophy with intellectual disability[J]. Am J Hum Genet, 2014, 94(2): 303-309. DOI: 10.1016/j.ajhg.2014.01.002.
|
| 2. |
Chen CA, Bosch DG, Cho MT, et al. The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations[J]. Genet Med, 2016, 18(11): 1143-1150. DOI: 10.1038/gim.2016.18.
|
| 3. |
Bertacchi M, Gruart A, Kaimakis P, et al. Mouse nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome[J/OL]. EMBO Mol Med, 2019, 11(8): e10291[2019-07-18]. https://pubmed.ncbi.nlm.nih.gov/31318166/. DOI: 10.15252/emmm.201910291.
|
| 4. |
Billiet B, Amati-Bonneau P, Desquiret-Dumas V, et al. Nr2f1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome[J]. Hum Mutat, 2022, 43(2): 128-142. DOI: 10.1002/humu.24305.
|
| 5. |
Kaiwar C, Zimmermann MT, Ferber MJ, et al. Novel nr2f1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome[J/OL]. Cold Spring Harb Mol Case Stud, 2017, 3(6): a002162[2017-11-21]. https://pubmed.ncbi.nlm.nih.gov/28963436/. DOI: 10.1101/mcs.a002162.
|
| 6. |
Bojanek EK, Mosconi MW, Guter S, et al. Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: a case study[J]. Am J Med Genet A, 2020, 182(1): 213-218. DOI: 10.1002/ajmg.a.61409.
|
| 7. |
Walsh S, G?sswein SS, Rump A, et al. Novel dominant-negative nr2f1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome[J/OL]. Eur J Med Genet, 2020, 63(10): 104019[2020-07-23]. https://pubmed.ncbi.nlm.nih.gov/32712214/. DOI: 10.1016/j.ejmg.2020.104019.
|
| 8. |
Park SE, Lee JS, Lee ST, et al. Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome[J]. Ophthalmic Genet, 2019, 40(4): 359-361. DOI: 10.1080/13816810.2019.1650074.
|
| 9. |
Ham M, Han J, Osann K, et al. Meta-analysis of genotype-phenotype analysis of opa1 mutations in autosomal dominant optic atrophy[J]. Mitochondrion, 2019, 46: 262-269. DOI: 10.1016/j.mito.2018.07.006.
|
| 10. |
中國罕見病聯盟/北京罕見病診療與保障學會眼科分會, 中華醫學會眼科學分會神經眼科學組. 中國常染色體顯性遺傳視神經萎縮診療專家共識(2024年)[J]. 中華眼科雜志, 2024, 60(3): 226-233. DOI: 10.3760/cma.j.cn112142-20231225-00308.China Rare Disease Alliance/Ophthalmology Branch of Beijing Rare Disease Diagnosis, Treatment and Assurance Society, Neuro-Ophthalmology Group of Ophthalmology Branch, Chinese Medical Association. Chinese expert consensus on the clinical diagnosis and treatment of autosomal dominant optic atrophy (2024)[J]. Chin J Ophthalmol, 2024, 60(3): 226-233. DOI: 10.3760/cma.j.cn112142-20231225-00308.
|
| 11. |
Chen BS, Yu-Wai-Man P, Newman NJ. Developments in the treatment of leber hereditary optic neuropathy[J]. Curr Neurol Neurosci Rep, 2022, 22(12): 881-892. DOI: 10.1007/s11910-022-01246-y.
|
| 12. |
張陽陽. Leber遺傳性視神經病變研究進展[J]. 中華實驗眼科雜志, 2015, 33(8): 755-759. DOI: 10.3760/cma.j.issn.2095-0160.2015.08.018.Zhang YY. Research progress of Leber hereditary optic neuropathy[J]. Chin J Exp Ophthalmol, 2015, 33(8): 755-759. DOI: 10.3760/cma.j.issn.2095-0160.2015.08.018.
|
| 13. |
Braverman NE, Raymond GV, Rizzo WB, et al. Peroxisome biogenesis disorders in the zellweger spectrum: an overview of current diagnosis, clinical manifestations, and treatment guidelines [J/OL]. Mol Genet Metab, 2016, 117(3): 313-321. DOI: 10.1016/j.ymgme.2015.12.009.
|
| 14. |
Kritzer A, Dutta R, Pramparo T, et al. Smith-lemli-opitz syndrome: Clinical, biochemical, and genetic insights with emerging treatment opportunities[J/OL]. Genet Med, 2025, 27(7): 101450[2025-03-29]. https://pubmed.ncbi.nlm.nih.gov/40314187/. DOI: 10.1016/j.gim.2025.101450.
|
