参考文献/References:
[1]赵堪兴.斜视弱视的临床与基础研究[J].天津科技,2014(3):19-23. [2]Vivian AJ.Congenital fibrosis of the extra-ocular muscles (CFEOM) and the cranial dysinnervation disorders[J].Eye (Lond),2020,34(2):251-255. [3]Heidary G,Mackinnon S,Elliott A,et al.Outcomes of strabismus surgery in genetically confirmed congenital fibrosis of the extraocular muscles[J].J AAPOS,2019,23(5):e1-253,e6. [4]Sedarous F,Chan T,Makar I.Alternating Hypotropia with Pseudoptosis: A New Phenotype of Congenital Cranial Dysinnervation Disorder[J].Case Rep Ophthalmol,2018,9(1):96-101. [5]Kacar Bayram A,Per H,Quon J,et al.A rare case of congenital fibrosis of extraocular muscle type 1A due to KIF21A mutation with Marcus Gunn jaw-winking phenomenon[J].Eur J Paediatr Neurol,2015,19(6):743-746. [6]Khan AO,Almutlaq M,Oystreck DT,et al.Retinal Dysfunction in Patients with Congenital Fibrosis of the Extraocular Muscles Type 2[J].Ophthalmic Genet,2016,37(2):130-136. [7]Balasubramanian R,Chew S,MacKinnon SE,et al.Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome[J].J Clin Endocrinol Metab,2015,100(3):E473-E477. [8]Oystreck DT.Ophthalmoplegia and Congenital Cranial Dysinnervation Disorders[J].J Binocul Vis Ocul Motil,2018,68(1):31-33. [9]Pan W,Sun K,Tang K,et al.Structural insights into ankyrin repeat-mediated recognition of the kinesin motor protein KIF21A by KANK1,a scaffold protein in focal adhesion[J].J Biol Chem,2018,293(6):1944-1956. [10]Soliani L,Spagnoli C,Salerno GG,et al.A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype[J].J Neuroophthalmol,2021,41(1):e85-e88. [11]Ramahi M,Rad A,Shirzadeh E,et al.KIF21A Gene c.2860C>T Mutation in CFEOM1A: The First Report from Iran[J].Avicenna J Med Biotechnol,2018,10(4):273-276. [12]Chen H,Liu T,Zeng Z,et al.Clinical characteristics of a KIF21A mutation in a Chinese family with congenital fibrosis of the extraocular muscles type 1[J].Medicine (Baltimore),2017,96(38):e8068. [13]Khan AO,Shinwari J,Omar A,et al.Lack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families[J].Mol Vis,2011(17):218-224. [14]Tischfield MA,Baris HN,Wu C,et al.Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance[J].Cell,2010,140(1):74-87. [15]Abu-Amero KK,Kondkar AA,Khan AO.A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles[J].BMC Res Notes,2017,10(1):562. [16]Gao X,Bali AS,Randell SH,et al.GRHL2 coordinates regeneration of a polarized mucociliary epithelium from basal stem cells[J].J Cell Biol,2015,211(3):669-682. [17]Nakano M,Yamada K,Fain J,et al.Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2[J].Nat Genet,2001,29(3):315-320. [18]Dong JM,Shen Q,Li J,et al.[Identification of a novel PHOX2A gene mutation in a Chinese family with congenital fibrosis of extraocular muscles type 2][J].Chin J Med Genet,2012,29(1):5-8. [19]Burbach JP,Hellemons AJ,Grant P,et al.The homeodomain transcription factor Phox2 in the stellate ganglion of the squid Loligo pealei[J].Biol Open,2015,4(8):954-960. [20]Smith SC,Olney AH,Beavers A,et al.The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3[J].Am J Med Genet A,2020,182(9):2161-2167. [21]Shinwari JM,Khan A,Awad S,et al.Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder[J].Am J Hum Genet,2015,96(1):147-152. [22]Chen J,Ye Q,Deng D,et al.KIF21A mutation in two Chinese families with congenital fibrosis of the extraocular muscles type 1 and 3[J].Mol Med Rep,2016,14(4):3145-3151. [23]Aubourg P,Krahn M,Bernard R,et al.Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4,based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes[J].J Med Genet,2005,42(3):253-259. [24]Tukel T,Uzumcu A,Gezer A,et al.A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter[J].J Med Genet,2005,42(5):408-415. [25]Abu-Amero KK,Khan AO,Oystreck DT,et al.The genetics of nonsyndromic bilateral Duane retraction syndrome[J].J AAPOS,2016,20(5):396-400,e2. [26]Park JG,Tischfield MA,Nugent AA,et al.Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects[J].Am J Hum Genet,2016,98(6):1220-1227. [27]Zhou TC,Duan WH,Fu XL,et al.Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome[J].Sci Rep,2020,10(1):16225. [28]Tischfield MA,Chan WM,Grunert JF,et al.HOXA1 mutations are not a common cause of Duane anomaly[J].Am J Med Genet A,2006,140(8):900-902. [29]Sato Y,Tsukaguchi H,Morita H,et al.A mutation in transcription factor MAFB causes Focal Segmental Glomerulosclerosis with Duane Retraction Syndrome[J].Kidney Int,2018,94(2):396-407. [30]Picciolini O,Porro M,Cattaneo E,et al.Moebius syndrome: clinical features, diagnosis, management and early intervention[J].Ital J Pediatr,2016,42(1):56. [31]Tomas-Roca L,Tsaalbi-Shtylik A,Jansen JG,et al.De novo mutations in PLXND1 and REV3L cause M?bius syndrome[J].Nat Commun,2015(6):7199. [32]Patel RM,Liu D,Gonzaga-Jauregui C,et al.An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation[J].Cold Spring Harb Mol Case Stud,2017,3(2):a000984. [33]Friocourt F,Chédotal A.The Robo3 receptor, a key player in the development, evolution, and function of commissural systems[J].Dev Neurobiol,2017,77(7):876-890. [34]Rousan LA,Qased A,Audat ZA,et al.Horizontal gaze palsy and progressive scoliosis with two novel ROBO3 gene mutations in two Jordanian families[J].Ophthalmic Genet,2019,40(2):150-156. [35]Bouchoucha S,Chikhaoui A,Najjar D,et al.Clinical and Genetic Heterogeneity in Six Tunisian Families With Horizontal Gaze Palsy With Progressive Scoliosis: A Retrospective Study of 13 Cases[J].Front Pediatr,2020(8):172. [36]Xiu Y,Lv Z,Wang D,et al.Introducing and Reviewing a Novel Mutation of ROBO3 in Horizontal Gaze Palsy with Progressive Scoliosis from a Chinese Family[J].J Mol Neurosci,2021,71(2):293-301.