{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T07:51:19Z","timestamp":1769759479978,"version":"3.49.0"},"reference-count":59,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2022,12,25]],"date-time":"2022-12-25T00:00:00Z","timestamp":1671926400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2022,12,25]],"date-time":"2022-12-25T00:00:00Z","timestamp":1671926400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"name":"the sub-project of the National Key R&D Program","award":["2021YFC2701002"],"award-info":[{"award-number":["2021YFC2701002"]}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81801461"],"award-info":[{"award-number":["81801461"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81873836"],"award-info":[{"award-number":["81873836"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81771594"],"award-info":[{"award-number":["81771594"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81671474"],"award-info":[{"award-number":["81671474"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81501267"],"award-info":[{"award-number":["81501267"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003453","name":"Natural Science Foundation of Guangdong Province","doi-asserted-by":"publisher","award":["2019A1515012034"],"award-info":[{"award-number":["2019A1515012034"]}],"id":[{"id":"10.13039\/501100003453","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Project of Guangzhou Science and Technology Bureau","award":["201607010341"],"award-info":[{"award-number":["201607010341"]}]},{"name":"Project of Guangzhou Science and Technology Bureau","award":["202201020643"],"award-info":[{"award-number":["202201020643"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genet"],"published-print":{"date-parts":[[2023,3]]},"DOI":"10.1007\/s00439-022-02516-y","type":"journal-article","created":{"date-parts":[[2022,12,25]],"date-time":"2022-12-25T04:15:06Z","timestamp":1671941706000},"page":"407-418","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Whole exome sequencing improves genetic diagnosis of fetal clubfoot"],"prefix":"10.1007","volume":"142","author":[{"given":"Ruibin","family":"Huang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hang","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunling","family":"Ma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fang","family":"Fu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ken","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"You","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ru","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tingying","family":"Lei","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiuxia","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shujuan","family":"Yan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Yang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dongzhi","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0056-5453","authenticated-orcid":false,"given":"Can","family":"Liao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,12,25]]},"reference":[{"key":"2516_CR1","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1016\/j.celrep.2014.12.015","volume":"10","author":"AM Alazami","year":"2015","unstructured":"Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z, Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R, Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B, Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA, Monies DM, Alkuraya FS (2015) Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep 10:148\u2013161","journal-title":"Cell Rep"},{"key":"2516_CR2","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1016\/j.ajhg.2010.06.010","volume":"87","author":"DM Alvarado","year":"2010","unstructured":"Alvarado DM, Aferol H, McCall K, Huang JB, Techy M, Buchan J, Cady J, Gonzales PR, Dobbs MB, Gurnett CA (2010) Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4. Am J Hum Genet 87:154\u2013160","journal-title":"Am J Hum Genet"},{"key":"2516_CR3","doi-asserted-by":"publisher","first-page":"373","DOI":"10.1038\/ejhg.2012.177","volume":"21","author":"DM Alvarado","year":"2013","unstructured":"Alvarado DM, Buchan JG, Frick SL, Herzenberg JE, Dobbs MB, Gurnett CA (2013) Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development. Eur J Hum Genet 21:373\u2013380","journal-title":"Eur J Hum Genet"},{"key":"2516_CR4","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1136\/jmedgenet-2015-103505","volume":"53","author":"DM Alvarado","year":"2016","unstructured":"Alvarado DM, McCall K, Hecht JT, Dobbs MB, Gurnett CA (2016) Deletions of 5\u2019 HOXC genes are associated with lower extremity malformations, including clubfoot and vertical talus. J Med Genet 53:250\u2013255","journal-title":"J Med Genet"},{"key":"2516_CR5","doi-asserted-by":"publisher","first-page":"745","DOI":"10.1038\/nrg3031","volume":"12","author":"MJ Bamshad","year":"2011","unstructured":"Bamshad MJ, Ng SB, Bigham AW, Tabor HK, Emond MJ, Nickerson DA, Shendure J (2011) Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 12:745\u2013755","journal-title":"Nat Rev Genet"},{"key":"2516_CR6","doi-asserted-by":"publisher","first-page":"457","DOI":"10.1002\/(SICI)1097-0223(199705)17:5<457::AID-PD86>3.0.CO;2-E","volume":"17","author":"I Bar-Hava","year":"1997","unstructured":"Bar-Hava I, Bronshtein M, Orvieto R, Shalev Y, Stal S, Ben-Rafael Z (1997) Caution: prenatal clubfoot can be both a transient and a late-onset phenomenon. Prenat Diagn 17:457\u2013460","journal-title":"Prenat Diagn"},{"key":"2516_CR7","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1097\/01241398-200303000-00025","volume":"23","author":"S Barker","year":"2003","unstructured":"Barker S, Chesney D, Miedzybrodzka Z, Maffulli N (2003) Genetics and epidemiology of idiopathic congenital talipes equinovarus. J Pediatr Orthop 23:265\u2013272","journal-title":"J Pediatr Orthop"},{"key":"2516_CR8","doi-asserted-by":"publisher","first-page":"550","DOI":"10.1002\/ajmg.a.35809","volume":"161","author":"AE Beck","year":"2013","unstructured":"Beck AE, McMillin MJ, Gildersleeve HI, Kezele PR, Shively KM, Carey JC, Regnier M, Bamshad MJ (2013) Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet A 161:550\u2013555","journal-title":"Am J Med Genet A"},{"key":"2516_CR9","doi-asserted-by":"publisher","first-page":"2418","DOI":"10.1056\/NEJMra1312543","volume":"370","author":"LG Biesecker","year":"2014","unstructured":"Biesecker LG, Green RC (2014) Diagnostic clinical genome and exome sequencing. N Engl J Med 370:2418\u20132425","journal-title":"N Engl J Med"},{"key":"2516_CR10","first-page":"864","volume":"79","author":"M Bronshtein","year":"1992","unstructured":"Bronshtein M, Liberson A, Lieberson S, Blumenfeld Z (1992) Clubfeet associated with hydrocephalus: new evidence of gradual dynamic development in utero. Obstet Gynecol 79:864\u2013867","journal-title":"Obstet Gynecol"},{"key":"2516_CR11","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1002\/pd.1984","volume":"28","author":"MJ Canto","year":"2008","unstructured":"Canto MJ, Cano S, Palau J, Ojeda F (2008) Prenatal diagnosis of clubfoot in low-risk population: associated anomalies and long-term outcome. Prenat Diagn 28:343\u2013346","journal-title":"Prenat Diagn"},{"key":"2516_CR12","first-page":"59","volume":"58","author":"D Chesney","year":"1999","unstructured":"Chesney D, Barker S, Miedzybrodzka Z, Haites N, Maffulli N (1999) Epidemiology and genetic theories in the etiology of congenital talipes equinovarus. Bull Hosp Jt Dis 58:59\u201364","journal-title":"Bull Hosp Jt Dis"},{"key":"2516_CR13","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1002\/jcu.22275","volume":"44","author":"BV de Segno","year":"2016","unstructured":"de Segno BV, Gruchy N, Bronfen C, Dolley P, Leporrier N, Creveuil C, Benoist G (2016) Prenatal diagnosis of clubfoot: Chromosomal abnormalities associated with fetal defects and outcome in a tertiary center. J Clin Ultrasound 44:100\u2013105","journal-title":"J Clin Ultrasound"},{"key":"2516_CR14","doi-asserted-by":"publisher","first-page":"1367","DOI":"10.1111\/aogs.13637","volume":"98","author":"D Di Mascio","year":"2019","unstructured":"Di Mascio D, Buca D, Khalil A, Rizzo G, Makatsariya A, Sileo F, Liberati M, Benedetti Panici P, Acharya G, D\u2019Antonio F (2019) Outcome of isolated fetal talipes: A systematic review and meta-analysis. Acta Obstet Gynecol Scand 98:1367\u20131377","journal-title":"Acta Obstet Gynecol Scand"},{"key":"2516_CR15","doi-asserted-by":"publisher","first-page":"247","DOI":"10.1515\/folmed-2017-0030","volume":"59","author":"C Faldini","year":"2017","unstructured":"Faldini C, Fenga D, Sanzarello I, Nanni M, Traina F, Rosa MAA (2017) Prenatal Diagnosis of Clubfoot: A Review of Current Available Methodology. Folia Med (plovdiv) 59:247\u2013253","journal-title":"Folia Med (plovdiv)"},{"key":"2516_CR16","doi-asserted-by":"publisher","first-page":"525","DOI":"10.1038\/372525a0","volume":"372","author":"JW Foster","year":"1994","unstructured":"Foster JW, Dominguez-Steglich MA, Guioli S, Kwok C, Weller PA, Stevanovi\u0107 M, Weissenbach J, Mansour S, Young ID, Goodfellow PN et al (1994) Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525\u2013530","journal-title":"Nature"},{"key":"2516_CR18","doi-asserted-by":"publisher","first-page":"3529","DOI":"10.1172\/JCI74994","volume":"124","author":"A Garg","year":"2014","unstructured":"Garg A, O\u2019Rourke J, Long C, Doering J, Ravenscroft G, Bezprozvannaya S, Nelson BR, Beetz N, Li L, Chen S, Laing NG, Grange RW, Bassel-Duby R, Olson EN (2014) KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. J Clin Invest 124:3529\u20133539","journal-title":"J Clin Invest"},{"key":"2516_CR19","doi-asserted-by":"publisher","first-page":"2285","DOI":"10.1002\/ajmg.a.31927","volume":"143","author":"JT Hecht","year":"2007","unstructured":"Hecht JT, Ester A, Scott A, Wise CA, Iovannisci DM, Lammer EJ, Langlois PH, Blanton SH (2007) NAT2 variation and idiopathic talipes equinovarus. Am J Med Genet A 143:2285\u20132291","journal-title":"Am J Med Genet A"},{"key":"2516_CR20","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1097\/01.bpo.0000173248.96936.90","volume":"25","author":"AL Heck","year":"2005","unstructured":"Heck AL, Bray MS, Scott A, Blanton SH, Hecht JT (2005) Variation in CASP10 gene is associated with idiopathic talipes equinovarus. J Pediatr Orthop 25:598\u2013602","journal-title":"J Pediatr Orthop"},{"key":"2516_CR21","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1136\/jmedgenet-2021-108040","volume":"59","author":"E Hordyjewska-Kowalczyk","year":"2022","unstructured":"Hordyjewska-Kowalczyk E, Nowosad K, Jamsheer A, Tylzanowski P (2022) Genotype-phenotype correlation in clubfoot (talipes equinovarus). J Med Genet 59:209\u2013219","journal-title":"J Med Genet"},{"key":"2516_CR22","first-page":"2296","volume":"9","author":"QX Hu","year":"2017","unstructured":"Hu QX, Li XD, Xie P, Wu CC, Zheng GZ, Lin FX, Xie D, Zhang QH, Liu DZ, Wang YG, Chang B, Du SX (2017) All-trans-retinoic acid activates SDF-1\/CXCR4\/ROCK2 signaling pathway to inhibit chondrogenesis. Am J Transl Res 9:2296\u20132305","journal-title":"Am J Transl Res"},{"issue":"9","key":"2516_CR23","doi-asserted-by":"publisher","first-page":"153","DOI":"10.3390\/genes13091573","volume":"13","author":"R Huang","year":"2022","unstructured":"Huang R, Yang X, Zhou H, Fu F, Cheng K, Wang Y, Ma C, Li R, Jing X, Han J, Zhen L, Pan M, Li D, Liao C (2022) Prenatal Diagnosis of Talipes Equinovarus by Ultrasound and Chromosomal Microarray Analysis: A Chinese Single-Center Retrospective Study. Genes 13(9):153","journal-title":"Genes"},{"key":"2516_CR24","doi-asserted-by":"publisher","first-page":"25","DOI":"10.4103\/jmsr.jmsr_94_19","volume":"4","author":"YN Khan","year":"2020","unstructured":"Khan YN, Huma Z, Khan U, Basit S (2020) Mutation Screening of Genes Associated with Congenital Talipes Equinovarus in Pakistani Families. J Musculoskelet Surg Res 4:25\u201330","journal-title":"J Musculoskelet Surg Res"},{"key":"2516_CR25","doi-asserted-by":"publisher","first-page":"978","DOI":"10.1126\/science.2543071","volume":"244","author":"B Lee","year":"1989","unstructured":"Lee B, Vissing H, Ramirez F, Rogers D, Rimoin D (1989) Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. Science 244:978\u2013980","journal-title":"Science"},{"key":"2516_CR26","doi-asserted-by":"publisher","DOI":"10.1002\/jgm.3119","volume":"21","author":"J Li","year":"2019","unstructured":"Li J, Wu J, Liu Y, Li Y, Xiao Z, Jiang X, Tang Y, Xu H (2019) HOXA9 rs3801776 G>A polymorphism increases congenital talipes equinovarus risk in a Chinese population. J Gene Med 21:e3119","journal-title":"J Gene Med"},{"key":"2516_CR27","doi-asserted-by":"publisher","first-page":"427","DOI":"10.1360\/yc-007-0427","volume":"29","author":"LY Liu","year":"2007","unstructured":"Liu LY, Jin CL, Cao DH, Zhao N, Lin CK, Sun KL (2007) Analysis of association between COL9A1 gene and idiopathic congenital talipes equinovarus. Yi Chuan 29:427\u2013432","journal-title":"Yi Chuan"},{"key":"2516_CR28","doi-asserted-by":"publisher","first-page":"747","DOI":"10.1016\/S0140-6736(18)31940-8","volume":"393","author":"J Lord","year":"2019","unstructured":"Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, Prigmore E, Keelagher R, Best SK, Carey GK, Mellis R, Robart S, Berry IR, Chandler KE, Cilliers D, Cresswell L, Edwards SL, Gardiner C, Henderson A, Holden ST, Homfray T, Lester T, Lewis RA, Newbury-Ecob R, Prescott K, Quarrell OW, Ramsden SC, Roberts E, Tapon D, Tooley MJ, Vasudevan PC, Weber AP, Wellesley DG, Westwood P, White H, Parker M, Williams D, Jenkins L, Scott RH, Kilby MD, Chitty LS, Hurles ME, Maher ER (2019) Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study. Lancet 393:747\u2013757","journal-title":"Lancet"},{"key":"2516_CR29","doi-asserted-by":"publisher","first-page":"B10","DOI":"10.1016\/j.ajog.2019.09.022","volume":"221","author":"J McKinney","year":"2019","unstructured":"McKinney J, Rac MWF, Gandhi M (2019) Congenital talipes equinovarus (clubfoot). Am J Obstet Gynecol 221:B10-b12","journal-title":"Am J Obstet Gynecol"},{"key":"2516_CR30","doi-asserted-by":"publisher","first-page":"170","DOI":"10.5603\/EP.2015.0024","volume":"66","author":"H Moravej","year":"2015","unstructured":"Moravej H, Karamifar H, Karamizadeh Z, Amirhakimi G, Atashi S, Nasirabadi S (2015) Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation. Endokrynol Pol 66:170\u2013174","journal-title":"Endokrynol Pol"},{"key":"2516_CR31","doi-asserted-by":"publisher","first-page":"1742","DOI":"10.1359\/JBMR.040711","volume":"19","author":"CF Munns","year":"2004","unstructured":"Munns CF, Rauch F, Ward L, Glorieux FH (2004) Maternal and fetal outcome after long-term pamidronate treatment before conception: a report of two cases. J Bone Miner Res 19:1742\u20131745","journal-title":"J Bone Miner Res"},{"key":"2516_CR32","doi-asserted-by":"publisher","first-page":"235","DOI":"10.2147\/TACG.S197205","volume":"12","author":"R Nenna","year":"2019","unstructured":"Nenna R, Turchetti A, Mastrogiorgio G, Midulla F (2019) COL2A1 Gene Mutations: Mechanisms of Spondyloepiphyseal Dysplasia Congenita. Appl Clin Genet 12:235\u2013238","journal-title":"Appl Clin Genet"},{"key":"2516_CR33","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1038\/ng.499","volume":"42","author":"SB Ng","year":"2010","unstructured":"Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ (2010) Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42:30\u201335","journal-title":"Nat Genet"},{"key":"2516_CR34","doi-asserted-by":"publisher","first-page":"36","DOI":"10.1002\/humu.20179","volume":"26","author":"G Nishimura","year":"2005","unstructured":"Nishimura G, Haga N, Kitoh H, Tanaka Y, Sonoda T, Kitamura M, Shirahama S, Itoh T, Nakashima E, Ohashi H, Ikegawa S (2005) The phenotypic spectrum of COL2A1 mutations. Hum Mutat 26:36\u201343","journal-title":"Hum Mutat"},{"key":"2516_CR35","doi-asserted-by":"publisher","first-page":"758","DOI":"10.1016\/S0140-6736(18)32042-7","volume":"393","author":"S Petrovski","year":"2019","unstructured":"Petrovski S, Aggarwal V, Giordano JL, Stosic M, Wou K, Bier L, Spiegel E, Brennan K, Stong N, Jobanputra V, Ren Z, Zhu X, Mebane C, Nahum O, Wang Q, Kamalakaran S, Malone C, Anyane-Yeboa K, Miller R, Levy B, Goldstein DB, Wapner RJ (2019) Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study. Lancet 393:758\u2013767","journal-title":"Lancet"},{"key":"2516_CR36","doi-asserted-by":"publisher","first-page":"6","DOI":"10.1016\/j.ajhg.2013.05.004","volume":"93","author":"G Ravenscroft","year":"2013","unstructured":"Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG (2013) Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy. Am J Hum Genet 93:6\u201318","journal-title":"Am J Hum Genet"},{"key":"2516_CR37","doi-asserted-by":"publisher","first-page":"1532","DOI":"10.1002\/pd.5809","volume":"40","author":"T Reischer","year":"2020","unstructured":"Reischer T, Liebmann-Reindl S, Bettelheim D, Balendran-Braun S, Streubel B (2020) Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome. Prenat Diagn 40:1532\u20131539","journal-title":"Prenat Diagn"},{"key":"2516_CR38","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1007\/BF00291646","volume":"69","author":"E Retief","year":"1985","unstructured":"Retief E, Parker MI, Retief AE (1985) Regional chromosome mapping of human collagen genes alpha 2(I) and alpha 1(I) (COLIA2 and COLIA1). Hum Genet 69:304\u2013308","journal-title":"Hum Genet"},{"key":"2516_CR39","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","volume":"22","author":"ER Riggs","year":"2020","unstructured":"Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL (2020) Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med 22:245\u2013257","journal-title":"Genet Med"},{"key":"2516_CR40","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1302\/1863-2548.13.190063","volume":"13","author":"B Sadler","year":"2019","unstructured":"Sadler B, Gurnett CA, Dobbs MB (2019) The genetics of isolated and syndromic clubfoot. J Child Orthop 13:238\u2013244","journal-title":"J Child Orthop"},{"key":"2516_CR41","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1002\/pd.5077","volume":"37","author":"M Sharon-Weiner","year":"2017","unstructured":"Sharon-Weiner M, Sukenik-Halevy R, Tepper R, Fishman A, Biron-Shental T, Markovitch O (2017) Diagnostic accuracy, work-up, and outcomes of pregnancies with clubfoot detected by prenatal sonography. Prenat Diagn 37:754\u2013763","journal-title":"Prenat Diagn"},{"key":"2516_CR42","doi-asserted-by":"publisher","first-page":"852","DOI":"10.1093\/aje\/kwj285","volume":"164","author":"L Sharp","year":"2006","unstructured":"Sharp L, Miedzybrodzka Z, Cardy AH, Inglis J, Madrigal L, Barker S, Chesney D, Clark C, Maffulli N (2006) The C677T polymorphism in the methylenetetrahydrofolate reductase gene (MTHFR), maternal use of folic acid supplements, and risk of isolated clubfoot: A case-parent-triad analysis. Am J Epidemiol 164:852\u2013861","journal-title":"Am J Epidemiol"},{"key":"2516_CR43","doi-asserted-by":"publisher","first-page":"201","DOI":"10.1016\/j.ejmg.2005.06.003","volume":"49","author":"AE Shrimpton","year":"2006","unstructured":"Shrimpton AE, Hoo JJ (2006) A TNNI2 mutation in a family with distal arthrogryposis type 2B. Eur J Med Genet 49:201\u2013206","journal-title":"Eur J Med Genet"},{"key":"2516_CR44","doi-asserted-by":"publisher","first-page":"2693","DOI":"10.1080\/14767058.2017.1353967","volume":"31","author":"P Stone","year":"2018","unstructured":"Stone P, Martis W, Crawford H (2018) \u2019Idiopathic congenital talipes equinovarus; not always an isolated anomaly. A Review of Long-Term Outcomes\u2019, J Matern Fetal Neonatal Med 31:2693\u20132698","journal-title":"A Review of Long-Term Outcomes', J Matern Fetal Neonatal Med"},{"key":"2516_CR45","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1086\/368294","volume":"72","author":"SS Sung","year":"2003","unstructured":"Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M (2003a) Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 72:681\u2013690","journal-title":"Am J Hum Genet"},{"key":"2516_CR46","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1086\/376418","volume":"73","author":"SS Sung","year":"2003","unstructured":"Sung SS, Brassington AM, Krakowiak PA, Carey JC, Jorde LB, Bamshad M (2003b) Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet 73:212\u2013214","journal-title":"Am J Hum Genet"},{"key":"2516_CR47","doi-asserted-by":"publisher","first-page":"954","DOI":"10.1038\/s41436-020-0750-4","volume":"22","author":"NL Vora","year":"2020","unstructured":"Vora NL, Gilmore K, Brandt A, Gustafson C, Strande N, Ramkissoon L, Hardisty E, Foreman AKM, Wilhelmsen K, Owen P, Weck KE, Berg JS, Powell CM, Powell BC (2020) An approach to integrating exome sequencing for fetal structural anomalies into clinical practice. Genet Med 22:954\u2013961","journal-title":"Genet Med"},{"key":"2516_CR48","doi-asserted-by":"publisher","first-page":"253","DOI":"10.7196\/SAMJ.2016.v106i3.10134","volume":"106","author":"AA Vorster","year":"2016","unstructured":"Vorster AA, Beighton P, Ramesar RS (2016) Digitotalar dysmorphism: Molecular elucidation. S Afr Med J 106:253\u2013255","journal-title":"S Afr Med J"},{"key":"2516_CR49","first-page":"653","volume":"22","author":"LL Wang","year":"2005","unstructured":"Wang LL, Jin CL, Liu LY, Zhang X, Ji SJ, Sun KL (2005) Analysis of association between 5\u2019 HOXD gene and idiopathic congenital talipes equinovarus. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 22:653\u2013656","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"},{"key":"2516_CR50","doi-asserted-by":"publisher","first-page":"821","DOI":"10.3892\/mmr.2012.1245","volume":"7","author":"Z Wang","year":"2013","unstructured":"Wang Z, Yan N, Liu L, Cao D, Gao M, Lin C, Jin C (2013) SOX9 overexpression plays a potential role in idiopathic congenital talipes equinovarus. Mol Med Rep 7:821\u2013825","journal-title":"Mol Med Rep"},{"key":"2516_CR51","doi-asserted-by":"publisher","first-page":"282","DOI":"10.1016\/j.toxlet.2013.06.220","volume":"224","author":"YG Wang","year":"2014","unstructured":"Wang YG, Li XD, Liu ZY, Zhang TG, Chen B, Hou GQ, Hong Q, Xie P, Du SX (2014) All-trans-retinoid acid (ATRA) may have inhibited chondrogenesis of primary hind limb bud mesenchymal cells by downregulating Pitx1 expression. Toxicol Lett 224:282\u2013289","journal-title":"Toxicol Lett"},{"key":"2516_CR52","doi-asserted-by":"publisher","first-page":"2170","DOI":"10.1002\/ajmg.a.34167","volume":"155","author":"KS Weymouth","year":"2011","unstructured":"Weymouth KS, Blanton SH, Bamshad MJ, Beck AE, Alvarez C, Richards S, Gurnett CA, Dobbs MB, Barnes D, Mitchell LE, Hecht JT (2011) Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot. Am J Med Genet A 155:2170\u20132179","journal-title":"Am J Med Genet A"},{"key":"2516_CR53","doi-asserted-by":"publisher","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","volume":"369","author":"Y Yang","year":"2013","unstructured":"Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, Braxton A, Beuten J, Xia F, Niu Z, Hardison M, Person R, Bekheirnia MR, Leduc MS, Kirby A, Pham P, Scull J, Wang M, Ding Y, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Eng CM (2013) Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 369:1502\u20131511","journal-title":"N Engl J Med"},{"key":"2516_CR54","doi-asserted-by":"publisher","first-page":"1181","DOI":"10.1007\/s00439-016-1701-7","volume":"135","author":"H Yang","year":"2016","unstructured":"Yang H, Zheng Z, Cai H, Li H, Ye X, Zhang X, Wang Z, Fu Q (2016) Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus. Hum Genet 135:1181\u20131189","journal-title":"Hum Genet"},{"key":"2516_CR55","doi-asserted-by":"publisher","first-page":"1229","DOI":"10.1002\/mgg3.1229","volume":"8","author":"KS Yeung","year":"2020","unstructured":"Yeung KS, Yu FNY, Fung CW, Wong S, Lee HHC, Fung STH, Fung GPG, Leung KY, Chung WH, Lee YT, Ng VKS, Yu MHC, Fung JLF, Tsang MHY, Chan KYK, Chan SHS, Kan ASY, Chung BHY (2020) The KLHL40 c1516A>C is a Chinese-specific founder mutation causing nemaline myopathy 8: Report of six patients with pre- and postnatal phenotypes. Mol Genet Genomic Med 8:1229","journal-title":"Mol Genet Genomic Med"},{"key":"2516_CR56","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1002\/ajmg.a.30531","volume":"133","author":"A Zankl","year":"2005","unstructured":"Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonaf\u00e9 L, Spranger J, Zabel B, Superti-Furga A (2005) Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A 133:61\u201367","journal-title":"Am J Med Genet A"},{"key":"2516_CR57","doi-asserted-by":"publisher","first-page":"334","DOI":"10.1136\/jmedgenet-2014-102303","volume":"51","author":"TX Zhang","year":"2014","unstructured":"Zhang TX, Haller G, Lin P, Alvarado DM, Hecht JT, Blanton SH, Stephens Richards B, Rice JP, Dobbs MB, Gurnett CA (2014) Genome-wide association study identifies new disease loci for isolated clubfoot. J Med Genet 51:334\u2013339","journal-title":"J Med Genet"},{"key":"2516_CR58","doi-asserted-by":"publisher","first-page":"723","DOI":"10.3724\/SP.J.1005.2008.00723","volume":"30","author":"N Zhao","year":"2008","unstructured":"Zhao N, Jin CL, Liu LY, Cao DH, Lin CK, Ji SJ, Sun KL (2008) Association study between mutations of transcription regulator sequences of COL1A1 gene and idiopathic con-genital talipes equinovarus. Yi Chuan 30:723\u2013727","journal-title":"Yi Chuan"},{"key":"2516_CR59","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1016\/j.ejmg.2011.03.002","volume":"54","author":"N Zhao","year":"2011","unstructured":"Zhao N, Jiang M, Han W, Bian C, Li X, Huang F, Kong Q, Li J (2011) A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus. Eur J Med Genet 54:351\u2013353","journal-title":"Eur J Med Genet"},{"key":"2516_CR60","doi-asserted-by":"publisher","first-page":"882","DOI":"10.2106\/JBJS.I.00819","volume":"92","author":"LE Zionts","year":"2010","unstructured":"Zionts LE, Zhao G, Hitchcock K, Maewal J, Ebramzadeh E (2010) Has the rate of extensive surgery to treat idiopathic clubfoot declined in the United States? J Bone Joint Surg Am 92:882\u2013889","journal-title":"J Bone Joint Surg Am"}],"container-title":["Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-022-02516-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00439-022-02516-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00439-022-02516-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,23]],"date-time":"2023-02-23T07:06:32Z","timestamp":1677135992000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00439-022-02516-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,25]]},"references-count":59,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2023,3]]}},"alternative-id":["2516"],"URL":"https:\/\/doi.org\/10.1007\/s00439-022-02516-y","relation":{},"ISSN":["0340-6717","1432-1203"],"issn-type":[{"value":"0340-6717","type":"print"},{"value":"1432-1203","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,25]]},"assertion":[{"value":"23 October 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 December 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 December 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interests"}},{"value":"This study was approved by the Ethics Committee of Guangzhou Women and Children\u2019s Medical Center.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}},{"value":"Informed consent was obtained from all individual participants included in the study.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent to participate"}}]}}