1 Luquetti DV,Heike CL,Hing AV,et al.Microtia:epidemiology and genetics[J].Am J Med Genet A,2012,158A(1):124-139.

2 Deng K,Dai L,Yi L,et al.Epidemiologic characteristics and time trend in the prevalence of anotia and microtia in China[J].Birth Defects Research Part A:Clinical and Molecular Teratology,2016,106(2):88-94.

3 Li CL,Chen Y,Shan J.Phenotypic characterization and risk factors for microtia in East China,a case-control study[J].Int J Pediatr Otorhinolaryngol,2014,78(12):2060-2063.

4 Santiago-Colón A,Rocheleau CM,Chen IC,et al.Association between maternal occupational exposure to polycyclic aromatic hydrocarbons and rare birth defects of the face and central nervous system[J].Birth Defects Research,2020,112(5):404-417.

5 Brown KK,Viana LM,Helwig CC.HOXA2 haploinsufficiency in dominant bilateral microtia and hearing loss[J].Hum Mutat,2013,34(10):1347-1351.

6 Piceci F,Morlino S,Castori M,et al.Identification of a second HOXA2 nonsense mutation in a family with autosomal dominant non-syndromic microtia and distinctive ear morphology[J].Clinical Genetics,2017,91(5):774-779.

7 Hao S,Jin L,Li C,et al.Mutational analysis of GSC,HOXA2 and PRKRA in 106 Chinese patients with microtia[J].International Journal of Pediatric Otorhinolaryngology,2017,93(2):78-82.

8 Wang P,Fan X,Wang Y,et al.Target sequencing of 307 deafness genes identifies candidate genes implicated in microtia[J].Oncotarget,2017,8(38):63324-63332.

9 Wang P,Wang Y,Fan X,et al.Identification of sequence variants associated with severe microtia-astresia by targeted sequencing[J].BMC Medical Genomics,2019,12(1):28.

10 Lin L,Pan B,Jiang H,et al.Mutational analysis of PACT gene in Chinese patients with microtia[J].Am J Med Genet A,2011,4(155A):906-910.

11 Gendron C,Schwentker A,Van Aalst JA.Genetic advances in the understanding of microtia[J].Journal of Pediatric Genetics,2016,5(4):189-197.

12 Beleza-Meireles A,Clayton-Smith J,Saraiva JM,et al.Oculo-auriculo-vertebral spectrum:a review of the literature and genetic update[J].Journal of Medical Genetics,2014,51(10):635-645.

13 Lopez E,Berenguer M,Tingaud-Sequeira A,et al.Mutations in MYT1,encoding the myelin transcription factor 1,are a rare cause of OAVS[J].Journal of Medical Genetics,2016,53(11):752-760.

14 Berenguer M,Tingaud-Sequeira A,Colovati M.A novel de novo mutation in MYT1,the unique OAVS gene identified so far[J].Eur J Hum Genet,2017,25(9):1083-1086.

15 Tingaud-Sequeira A,Trimouille A,Marlin S,et al.Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS[J].Mol Genet Genomic Med,2020,10(8):e1375.

16 Rengasamy Venugopalan S,Farrow E,Sanchez-Lara PA,et al.A novel nonsense substitution identified in the AMIGO2 gene in an Occulo-Auriculo-Vertebral spectrum patient[J].Orthodontics & Craniofacial Research,2019,22(S1):163-167.

17 Zamariolli M,Colovati M,Moysés-Oliveira M,et al.Rare single-nucleotide variants in oculo-auriculo-vertebral spectrum (OAVS)[J].Molecular Genetics & Genomic Medicine,2019,7(10):e00959.

18 Vincent M,Geneviève D,Ostertag A,et al.Treacher Collins syndrome:a clinical and molecular study based on a large series of patients[J].Genetics in Medicine,2016,18(1):49-56.

19 殷斌，石冰，贾仲林.Treacher Collins综合征的致病基因和临床治疗策略[J].华西口腔医学杂志，2019,37(3):330-335.

20 Dauwerse JG,Dixon J,Seland S,et al.Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome[J].Nature Genetics,2011,43(1):20-22.

21 Lau MC,Kwong EM,Lai KP,et al.Pathogenesis of POLR1C-dependent Type 3 Treacher Collins Syndrome revealed by a zebrafish model[J].Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease,2016,1862(6):1147-1158.

22 Noack Watt KE,Achilleos A,Neben CL,et al.The roles of RNA polymerase I and III subunits polr1c and polr1d in craniofacial development and in zebrafish models of treacher collins syndrome[J].PLOS Genetics,2016,12(7):e1006187.

23 Ghesh L,Vincent M,Delemazure AS,et al.Autosomal recessive Treacher Collins syndrome due to POLR1C mutations:Report of a new family and review of the literature[J].American Journal of Medical Genetics Part A,2019,179(7):1390-1394.

24 Sanchez E,Laplace-Builhé B,Mau-Them FT,et al.POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4[J].Genet Med,2019,22(3):547-556.