{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,25]],"date-time":"2025-11-25T20:27:33Z","timestamp":1764102453182},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2008,6,28]],"date-time":"2008-06-28T00:00:00Z","timestamp":1214611200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Surg Int"],"published-print":{"date-parts":[[2008,8]]},"DOI":"10.1007\/s00383-008-2193-x","type":"journal-article","created":{"date-parts":[[2008,6,27]],"date-time":"2008-06-27T09:00:24Z","timestamp":1214557224000},"page":"893-897","source":"Crossref","is-referenced-by-count":22,"title":["Investigation of FGF10 as a candidate gene in patients with anorectal malformations and exstrophy of the cloaca"],"prefix":"10.1007","volume":"24","author":[{"given":"Victoria","family":"Kr\u00fcger","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mercedeh","family":"Khoshvaghti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heiko","family":"Reutter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannes","family":"Vogt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas M.","family":"Boemers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Ludwig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,6,28]]},"reference":[{"key":"2193_CR1","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1053\/spsu.2002.31807","volume":"11","author":"TM Boemers","year":"2002","unstructured":"Boemers TM (2002) Urinary incontinence and vesicourethral dysfunction in pediatric surgical conditions. Semin Pediatr Surg 11:91\u201399. doi: 10.1053\/spsu.2002.31807","journal-title":"Semin Pediatr Surg"},{"key":"2193_CR2","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/S0022-3468(87)80236-1","volume":"22","author":"ED Smith","year":"1987","unstructured":"Smith ED (1987) The bath water needs changing, but don\u2019t throw out the baby: an overview of anorectal malformations. J Pediatr Surg 22:335\u2013348. doi: 10.1016\/S0022-3468(87)80236-1","journal-title":"J Pediatr Surg"},{"key":"2193_CR3","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1007\/BF00177146","volume":"1","author":"FD Stephens","year":"1986","unstructured":"Stephens FD, Smith ED (1986) Classification, identification, and assessment of surgical treatment of anorectal anomalies. Pediatr Surg Int 1:200\u2013205. doi: 10.1007\/BF00177146","journal-title":"Pediatr Surg Int"},{"key":"2193_CR4","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.ejmg.2007.04.002","volume":"50","author":"C Stoll","year":"2007","unstructured":"Stoll C, Alembik Y, Dott B, Roth MP (2007) Associated malformations in patients with anorectal anomalies. Eur J Med Genet 50:281\u2013290. doi: 10.1016\/j.ejmg.2007.04.002","journal-title":"Eur J Med Genet"},{"key":"2193_CR5","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1002\/ajmg.1211","volume":"99","author":"JC Carey","year":"2001","unstructured":"Carey JC (2001) Exstrophy of the cloaca and the OEIS complex: one and the same. Am J Med Genet 99:270. doi: 10.1002\/ajmg.1211","journal-title":"Am J Med Genet"},{"key":"2193_CR6","first-page":"1939","volume-title":"Campell\u2019s urology","author":"JP Gearhart","year":"1998","unstructured":"Gearhart JP, Jeffs RD (1998) Exstrophy-epispadias complex and bladder anomalies. In: Walsh PC, Retnik AB, Vaughan ED, Wein AJ (eds) Campell\u2019s urology, 7th edn. WB Saunders, Philadelphia, pp 1939\u20131990","edition":"7"},{"key":"2193_CR7","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1111\/j.1464-410X.2004.05170.x","volume":"94","author":"SA Boyadjiev","year":"2004","unstructured":"Boyadjiev SA, Dodson JL, Radford CL et al (2004) Clinical and molecular characterization of the bladder exstrophy-epispadias complex: analysis of 232 families. BJU Int 94:1337\u20131343. doi: 10.1111\/j.1464-410X.2004.05170.x","journal-title":"BJU Int"},{"key":"2193_CR8","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1136\/adc.62.6.576","volume":"62","author":"GR Boocock","year":"1987","unstructured":"Boocock GR, Donnai D (1987) Anorectal malformation: familial aspects and associated anomalies. Arch Dis Child 62:576\u2013579","journal-title":"Arch Dis Child"},{"key":"2193_CR9","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1002\/ajmg.1532","volume":"103","author":"A Cuschieri","year":"2001","unstructured":"Cuschieri A (2001) Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe. Am J Med Genet 103:207\u2013215. doi: 10.1002\/ajmg.1532","journal-title":"Am J Med Genet"},{"key":"2193_CR10","doi-asserted-by":"crossref","first-page":"124","DOI":"10.1016\/j.jpedsurg.2006.09.012","volume":"42","author":"RA Falcone Jr","year":"2007","unstructured":"Falcone RA Jr, Levitt MA, Pe\u00f1a A, Bates M (2007) Increased heritability of certain types of anorectal malformations. J Pediatr Surg 42:124\u2013128. doi: 10.1016\/j.jpedsurg.2006.09.012","journal-title":"J Pediatr Surg"},{"key":"2193_CR11","first-page":"175","volume":"74","author":"RC Anderson","year":"1954","unstructured":"Anderson RC, Reed SC (1954) The likelihood of recurrence of congenital malformations. J Lancet 74:175\u2013176","journal-title":"J Lancet"},{"key":"2193_CR12","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/S0022-5347(17)49605-4","volume":"132","author":"E Shapiro","year":"1984","unstructured":"Shapiro E, Lepor H, Jeffs RD (1984) The inheritance of the exstrophy-epispadias complex. J Urol 132:308\u2013310","journal-title":"J Urol"},{"key":"2193_CR13","doi-asserted-by":"crossref","first-page":"2751","DOI":"10.1002\/ajmg.a.31975","volume":"143A","author":"H Reutter","year":"2007","unstructured":"Reutter H, Qi L, Gerhart JP et al (2007) Concordance analyses of twins with bladder exstrophy-epispadias complex suggest genetic etiology. Am J Med Genet A 143A:2751\u20132756. doi: 10.1002\/ajmg.a.31975","journal-title":"Am J Med Genet A"},{"key":"2193_CR14","doi-asserted-by":"crossref","first-page":"23828","DOI":"10.1074\/jbc.M201658200","volume":"277","author":"S Bagai","year":"2002","unstructured":"Bagai S, Rubio E, Cheng JF et al (2002) Fibroblast growth factor-10 is a mitogen for urothelial cells. J Biol Chem 277:23828\u201323837. doi: 10.1074\/jbc.M201658200","journal-title":"J Biol Chem"},{"key":"2193_CR15","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/j.jpedsurg.2003.11.034","volume":"39","author":"TJ Fairbanks","year":"2004","unstructured":"Fairbanks TJ, DeLanghe S, Sala FG et al (2004) Fibroblast growth factor 10 (Fgf10) invalidation results in anorectal malformation in mice. J Pediatr Surg 39:360\u2013365. doi: 10.1016\/j.jpedsurg.2003.11.034","journal-title":"J Pediatr Surg"},{"key":"2193_CR16","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/978-1-4419-8995-6_8","volume":"545","author":"S Yucel","year":"2004","unstructured":"Yucel S, Liu W, Cordero D, Donjacour A, Cunha G, Baskin LS (2004) Anatomical studies of the fibroblast growth factor-10 mutant, Sonic Hedge Hog mutant and androgen receptor mutant mouse genital tubercle. Adv Exp Med Biol 545:123\u2013148","journal-title":"Adv Exp Med Biol"},{"key":"2193_CR17","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1038\/5096","volume":"21","author":"K Sekine","year":"1999","unstructured":"Sekine K, Ohuchi H, Fujiwara M et al (1999) Fgf10 is essential for limb and lung formation. Nat Genet 21:138\u2013141. doi: 10.1038\/5096","journal-title":"Nat Genet"},{"key":"2193_CR18","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/ng1507","volume":"37","author":"M Entesarian","year":"2005","unstructured":"Entesarian M, Matsson H, Klar J et al (2005) Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. Nat Genet 37:125\u2013127. doi: 10.1038\/ng1507","journal-title":"Nat Genet"},{"key":"2193_CR19","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/sj.ejhg.5201762","volume":"15","author":"M Entesarian","year":"2007","unstructured":"Entesarian M, Dahlqvist J, Shashi V et al (2007) FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG). Eur J Hum Genet 15:379\u2013382. doi: 10.1038\/sj.ejhg.5201762","journal-title":"Eur J Hum Genet"},{"key":"2193_CR20","doi-asserted-by":"crossref","first-page":"414","DOI":"10.1038\/ng1757","volume":"38","author":"E Rohmann","year":"2006","unstructured":"Rohmann E, Brunner HG, Kayserili H et al (2006) Mutations in different components of FGF signaling in LADD syndrome. Nat Genet 38:414\u2013417. doi: 10.1038\/ng1757","journal-title":"Nat Genet"},{"key":"2193_CR21","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1111\/j.1399-0004.2006.00597.x","volume":"69","author":"JM Milunsky","year":"2006","unstructured":"Milunsky JM, Zhao G, Maher TA, Colby R, Everman DB (2006) LADD syndrome is caused by FGF10 mutations. Clin Genet 69:349\u2013354. doi: 10.1111\/j.1399-0004.2006.00597.x","journal-title":"Clin Genet"},{"key":"2193_CR22","doi-asserted-by":"crossref","first-page":"1236","DOI":"10.1016\/S0140-6736(74)91058-7","volume":"1","author":"TJ David","year":"1974","unstructured":"David TJ, O\u2019Callaghan SE (1974) Birth defects and oral hormone preparations. Lancet 1:1236. doi: 10.1016\/S0140-6736(74)91058-7","journal-title":"Lancet"},{"key":"2193_CR23","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1016\/S0002-9440(10)64387-8","volume":"161","author":"TA Ince","year":"2002","unstructured":"Ince TA, Cviko AP, Quade BJ et al (2002) p63 coordinates anogenital modeling and epithelial cell differentiation in the developing female urogenital tract. Am J Pathol 161:1111\u20131117","journal-title":"Am J Pathol"},{"key":"2193_CR24","doi-asserted-by":"crossref","first-page":"4783","DOI":"10.1242\/dev.02621","volume":"133","author":"W Cheng","year":"2006","unstructured":"Cheng W, Jacobs WB, Zhang JJR et al (2006) \u0394Np63 plays an anti-apoptotic role in ventral bladder development. Development 133:4783\u20134792. doi: 10.1242\/dev.02621","journal-title":"Development"},{"key":"2193_CR25","unstructured":"Ching BJ, Ludwig M, Reutter H, Nauta C, Gearhart JP, Boyadjiev SA (2007) Potential role of p63 in human bladder exstrophy. In: 57th annual meeting of The American Society of human genetics (ASHG), San Diego, California, USA, 2007, p 478 (abstr)"},{"key":"2193_CR26","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1016\/S0002-9440(10)61747-6","volume":"159","author":"R Mo","year":"2001","unstructured":"Mo R, Kim JH, Zhang J, Chiang C, Hui CC, Kim PCW (2001) Anorectal malformations caused by defects in sonic hedgehog signaling. Am J Pathol 159:765\u2013774","journal-title":"Am J Pathol"},{"key":"2193_CR27","doi-asserted-by":"crossref","first-page":"1266","DOI":"10.1016\/j.jpedsurg.2007.02.019","volume":"42","author":"SW Moore","year":"2007","unstructured":"Moore SW, Zaahl MG (2007) Association of endothelin-\u03b2 receptor (EDNRB) gene variants in anorectal malformations. J Pediatr Surg 42:1266\u20131270. doi: 10.1016\/j.jpedsurg.2007.02.019","journal-title":"J Pediatr Surg"},{"key":"2193_CR28","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1034\/j.1399-0004.2001.590503.x","volume":"59","author":"JH Kim","year":"2001","unstructured":"Kim JH, Kim PCW, Hui CC (2001) The VACTERL association: lessons from the Sonic hedgehog pathway. Clin Genet 59:306\u2013315. doi: 10.1034\/j.1399-0004.2001.590503.x","journal-title":"Clin Genet"},{"key":"2193_CR29","doi-asserted-by":"crossref","first-page":"262","DOI":"10.4161\/cc.6.3.3796","volume":"6","author":"T Rinne","year":"2007","unstructured":"Rinne T, Brunner HG, van Bockhoven H (2007) p63-associated disorders. Cell Cycle 6:262\u2013268","journal-title":"Cell Cycle"},{"key":"2193_CR30","unstructured":"Ornitz DM, Itoh N (2001) Fibroblast growth factors. Genome Biol 2:REVIEWS3005"},{"key":"2193_CR31","doi-asserted-by":"crossref","first-page":"932","DOI":"10.1038\/nature05977","volume":"447","author":"SM Mirkin","year":"2007","unstructured":"Mirkin SM (2007) Expandable DNA repeats and human disease. Nature 447:932\u2013940. doi: 10.1038\/nature05977","journal-title":"Nature"}],"container-title":["Pediatric Surgery International"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00383-008-2193-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00383-008-2193-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00383-008-2193-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T11:52:11Z","timestamp":1559044331000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00383-008-2193-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6,28]]},"references-count":31,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2008,8]]}},"alternative-id":["2193"],"URL":"https:\/\/doi.org\/10.1007\/s00383-008-2193-x","relation":{},"ISSN":["0179-0358","1437-9813"],"issn-type":[{"value":"0179-0358","type":"print"},{"value":"1437-9813","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,6,28]]}}}