Philip L , Townes A , Eric RB .et al. Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies [J ] . J Pediatr . 1972 , 81 ( 2 ): 321 - 326 .

Kohlhase J . Townes-Brocks Syndrome [EB/OL ] . In: AdamMP, MirzaaGM, PagonRA, et al. editors. GeneReviews® [Internet ] . [Updated 2016 Jan 14 ] .Seattle (WA): University of Washington, Seattle, 1993 - 2023 .

Yang G , Yin Y , Tan Z , et al . Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss [J ] . BMC Med Genomics , 2021 , 14 ( 1 ): 1 - 7 .

Liberalesso P , Cordeiro ML , Karuta S , et al . Phenotypic and genotypic aspects of Townes-Brock syndrome: case report of patient in southern Brazil with a new SALL1 hotspot region nonsense mutation [J ] . BMC Med Genet , 2017 , 18 ( 1 ): 125 - 125 .

Kiefer SM , Ohlemiller KK , Yang J , et al . Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects [J ] . Hum Mol Genet , 2003 , 12 ( 17 ): 2221 - 2227 .

Nishinakamura R , Matsumoto Y , Nakao K , et al . Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development [J ] . Development (Cambridge, England) , 2001 , 128 ( 16 ): 3105 - 3115 .

Kiefer SM , Robbins L , Barina A , et al . SALL1 truncated protein expression in Townes-Brocks syndrome leads to ectopic expression of downstream genes [J ] . Hum Mutat , 2008 , 29 ( 9 ): 1133 - 1140 .

Kohlhase J , Taschner PE , Burfeind P , et al . Molecular analysis of SALL1 mutations in Townes-Brocks syndrome [J ] . Am J Hum Genet , 1999 , 64 ( 2 ): 435 - 445 .

Bozal-Basterra L , Gonzalez-Santamarta M , Muratore V , et al . LUZP1, a novel regulator of primary cilia and the actin cytoskeleton, is a contributing factor in Townes-Brocks Syndrome [J ] . Elife , 2020 , 9 : e55957 .

Miller EM , Hopkin R , Bao L , et al . Implications for genotype-phenotype predictions in Townes-Brocks syndrome: case report of a novel SALL1 deletion and review of the literature [J ] . Am J Med Genet A , 2012 , 158 A( 3 ): 533 - 540 .

Borozdin W , Steinmann K , Albrecht B , et al . Detection of heterozygous SALL1 deletions by quantitative real time PCR proves the contribution of a SALL1 dosage effect in the pathogenesis of Townes-Brocks syndrome [J ] . Hum Mutat , 2006 , 27 ( 2 ): 211 - 212 .

Suckling PV . Familial incidence of congenital abnormalities of the anus and rectum [J ] . Arch. Dis. Child , 1949 , 24 ( 117 ): 75 - 75 .

Cozzi F . Wilkinson AW . Familial incidence of congenital anorectal anomalies [J ] . Surgery , 1968 , 64 : 669 - 671 .

Kaijser K , Malmstrom-groth A . Ano-rectal abnormalities as a congenital familial incidence [J ] . Acta Paediatr (Stockh) , 1957 , 46 ( 2 ): 199 - 200 .

Neri G , Blumberg B , Miles PV , et al . Sensorineural deafness in the FG syndrome: report on four new cases [J ] . Am J Med Genet , 1984 , 19 ( 2 ): 369 - 377 .

Beaudoux O , Lebre AS , Doco Fenzy M , et al . Adult diagnosis of Townes-Brocks syndrome with renal failure: Two related cases and review of literature [J ] . Am J Med Genet A , 2021 , 185 ( 3 ): 937 - 944 .

Botzenhart EM , Bartalini G , Blair E , et al . Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region [J ] . Hum Mutat , 2007 , 28 ( 2 ): 204 - 205 .

Botzenhart EM , Green A , Ilyina H , et al . SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype [J ] . Hum Mutat , 2005 , 26 ( 3 ): 1 - 9 .

冀飞 , 郗昕 , 洪梦迪 , 等 . 语前聋人工耳蜗植入患者听觉和言语康复效果的问卷分级评估 [J ] . 中华耳鼻咽喉头颈外科杂志 , 2004 , 39 ( 10 ): 12 - 16 .

陈雪清 , 张忠心 . 小龄耳聋儿童听觉能力发展问卷评估 [J ] . 听力学及言语疾病杂志 , 2011 , 19 ( 4 ): 349 - 352 .