{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:44:55Z","timestamp":1791121495294,"version":"4.1.0"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"9","license":[{"start":{"date-parts":[[2009,3,11]],"date-time":"2009-03-11T00:00:00Z","timestamp":1236729600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Hum Genet"],"published-print":{"date-parts":[[2009,9]]},"DOI":"10.1038\/ejhg.2009.18","type":"journal-article","created":{"date-parts":[[2009,3,11]],"date-time":"2009-03-11T11:57:22Z","timestamp":1236772642000},"page":"1112-1120","source":"Crossref","is-referenced-by-count":44,"title":["Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog"],"prefix":"10.1038","volume":"17","author":[{"given":"Ashley M","family":"Byrnes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lemuel","family":"Racacho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"Grimsey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louanne","family":"Hudgins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea C","family":"Kwan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Sangalli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexa","family":"Kidd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuval","family":"Yaron","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Lung","family":"Lau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah M","family":"Nikkel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis E","family":"Bulman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2009,3,11]]},"reference":[{"key":"BFejhg200918_CR1","doi-asserted-by":"publisher","first-page":"292","DOI":"10.1136\/jmg.37.4.292","volume":"37","author":"CM Armour","year":"2000","unstructured":"Armour CM, Bulman DE, Hunter AG : Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles. J Med Genet 2000; 37: 292\u2013296.","journal-title":"J Med Genet"},{"key":"BFejhg200918_CR2","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1017\/S037016460001155X","volume":"28","author":"H Drinkwater","year":"1908","unstructured":"Drinkwater H : An account of a brachydactylous family. Proc R Soc Edinb 1908; 28: 35\u201357.","journal-title":"Proc R Soc Edinb"},{"key":"BFejhg200918_CR3","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1007\/BF02981545","volume":"2","author":"H Drinkwater","year":"1912","unstructured":"Drinkwater H : Account of a family showing minor brachydactyly. J Genet 1912; 2: 21\u201340.","journal-title":"J Genet"},{"key":"BFejhg200918_CR4","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1007\/BF02981724","volume":"4","author":"H Drinkwater","year":"1915","unstructured":"Drinkwater H : A second brachydactylous family. J Genet 1915; 4: 323\u2013339.","journal-title":"J Genet"},{"key":"BFejhg200918_CR5","first-page":"20","volume":"113","author":"DV Haws","year":"1963","unstructured":"Haws DV, McKusick VA : Farabee's brachydactylous kindred revisited. Bull Johns Hopkins Hosp 1963; 113: 20\u201330.","journal-title":"Bull Johns Hopkins Hosp"},{"key":"BFejhg200918_CR6","doi-asserted-by":"publisher","first-page":"892","DOI":"10.1086\/302806","volume":"66","author":"X Yang","year":"2000","unstructured":"Yang X, She C, Guo J et al: A locus for brachydactyly type A-1 maps to chromosome 2q35\u2013q36. Am J Hum Genet 2000; 66: 892\u2013903.","journal-title":"Am J Hum Genet"},{"key":"BFejhg200918_CR7","doi-asserted-by":"publisher","first-page":"2152","DOI":"10.1002\/ajmg.a.32441","volume":"146A","author":"EM Lodder","year":"2008","unstructured":"Lodder EM, Hoogeboom AJ, Coert JH, de Graaff E : Deletion of 1 amino acid in Indian hedgehog leads to brachydactylyA1. Am J Med Genet A 2008; 146A: 2152\u20132154.","journal-title":"Am J Med Genet A"},{"key":"BFejhg200918_CR8","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1097\/00019605-199801000-00004","volume":"7","author":"A Slavotinek","year":"1998","unstructured":"Slavotinek A, Donnai D : A boy with severe manifestations of type A1 brachydactyly. Clin Dysmorphol 1998; 7: 21\u201327.","journal-title":"Clin Dysmorphol"},{"key":"BFejhg200918_CR9","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1002\/ajmg.1320330103","volume":"33","author":"M Tsukahara","year":"1989","unstructured":"Tsukahara M, Azuno Y, Kajii T : Type A1 brachydactyly, dwarfism, ptosis, mixed partial hearing loss, microcephaly, and mental retardation. Am J Med Genet 1989; 33: 7\u20139.","journal-title":"Am J Med Genet"},{"key":"BFejhg200918_CR10","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<469::AID-AJMG4>3.0.CO;2-I","volume":"75","author":"DK Grange","year":"1998","unstructured":"Grange DK, Balfour IC, Chen SC, Wood EG : Familial syndrome of progressive arterial occlusive disease consistent with fibromuscular dysplasia, hypertension, congenital cardiac defects, bone fragility, brachysyndactyly, and learning disabilities. Am J Med Genet 1998; 75: 469\u2013480.","journal-title":"Am J Med Genet"},{"key":"BFejhg200918_CR11","doi-asserted-by":"publisher","first-page":"208","DOI":"10.1136\/jmg.15.3.208","volume":"15","author":"DO Sillence","year":"1978","unstructured":"Sillence DO : Brachydactyly, distal symphalangism, scoliosis, tall stature, and club feet: a new syndrome. J Med Genet 1978; 15: 208\u2013211.","journal-title":"J Med Genet"},{"key":"BFejhg200918_CR12","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1097\/00019605-199801000-00005","volume":"7","author":"ML Raff","year":"1998","unstructured":"Raff ML, Leppig KA, Rutledge JC, Weinberger E, Pagon RA : Brachydactyly type A1 with abnormal menisci and scoliosis in three generations. Clin Dysmorphol 1998; 7: 29\u201334.","journal-title":"Clin Dysmorphol"},{"key":"BFejhg200918_CR13","volume-title":"Hereditary and Sexual Influences in Meristic Variation: A Study of Digital Malformations in Man","author":"WC Farabee","year":"1903","unstructured":"Farabee WC : Hereditary and Sexual Influences in Meristic Variation: A Study of Digital Malformations in Man. Boston: Harvard University, 1903."},{"key":"BFejhg200918_CR14","doi-asserted-by":"publisher","first-page":"386","DOI":"10.1038\/ng577","volume":"28","author":"B Gao","year":"2001","unstructured":"Gao B, Guo J, She C et al: Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Nat Genet 2001; 28: 386\u2013388.","journal-title":"Nat Genet"},{"key":"BFejhg200918_CR15","doi-asserted-by":"publisher","first-page":"186","DOI":"10.1136\/jmg.39.3.186","volume":"39","author":"CM Armour","year":"2002","unstructured":"Armour CM, McCready ME, Baig A, Hunter AG, Bulman DE : A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2. J Med Genet 2002; 39: 186\u2013188.","journal-title":"J Med Genet"},{"key":"BFejhg200918_CR16","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1136\/jmg.40.1.42","volume":"40","author":"TJ Kirkpatrick","year":"2003","unstructured":"Kirkpatrick TJ, Au KS, Mastrobattista JM, McCready ME, Bulman DE, Northrup H : Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. J Med Genet 2003; 40: 42\u201344.","journal-title":"J Med Genet"},{"key":"BFejhg200918_CR17","doi-asserted-by":"publisher","first-page":"1040","DOI":"10.1086\/374318","volume":"72","author":"J Hellemans","year":"2003","unstructured":"Hellemans J, Coucke PJ, Giedion A et al: Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. Am J Hum Genet 2003; 72: 1040\u20131046.","journal-title":"Am J Hum Genet"},{"key":"BFejhg200918_CR18","doi-asserted-by":"publisher","first-page":"2072","DOI":"10.1101\/gad.13.16.2072","volume":"13","author":"B St-Jacques","year":"1999","unstructured":"St-Jacques B, Hammerschmidt M, McMahon AP : Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation. Genes Dev 1999; 13: 2072\u20132086.","journal-title":"Genes Dev"},{"key":"BFejhg200918_CR19","doi-asserted-by":"publisher","first-page":"900","DOI":"10.1172\/JCI200523675","volume":"115","author":"M Niedermaier","year":"2005","unstructured":"Niedermaier M, Schwabe GC, Fees S et al: An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression. J Clin Invest 2005; 115: 900\u2013909.","journal-title":"J Clin Invest"},{"key":"BFejhg200918_CR20","doi-asserted-by":"publisher","first-page":"368","DOI":"10.1007\/s00439-002-0815-2","volume":"111","author":"ME McCready","year":"2002","unstructured":"McCready ME, Sweeney E, Fryer AE et al: A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved. Hum Genet 2002; 111: 368\u2013375.","journal-title":"Hum Genet"},{"key":"BFejhg200918_CR21","first-page":"285","volume":"117","author":"ME McCready","year":"2005","unstructured":"McCready ME, Grimsey A, Styer T, Nikkel SM, Bulman DE : A century later Farabee has his mutation. Hum Genet 2005; 117: 285\u2013287.","journal-title":"Hum Genet"},{"key":"BFejhg200918_CR22","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1007\/s10038-006-0012-6","volume":"51","author":"M Liu","year":"2006","unstructured":"Liu M, Wang X, Cai Z et al: A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family. J Hum Genet 2006; 51: 727\u2013731.","journal-title":"J Hum Genet"},{"key":"BFejhg200918_CR23","doi-asserted-by":"publisher","first-page":"132","DOI":"10.1136\/jmg.40.2.132","volume":"40","author":"N Giordano","year":"2003","unstructured":"Giordano N, Gennari L, Bruttini M et al: Mild brachydactyly type A1 maps to chromosome 2q35\u2013q36 and is caused by a novel IHH mutation in a three generation family. J Med Genet 2003; 40: 132\u2013135.","journal-title":"J Med Genet"},{"key":"BFejhg200918_CR24","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1111\/j.1469-1809.1933.tb02095.x","volume":"5","author":"KI Nissen","year":"1933","unstructured":"Nissen KI : A study in inherited brachydactyly. Ann Eugen 1933; 5: 281\u2013301.","journal-title":"Ann Eugen"},{"key":"BFejhg200918_CR25","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1186\/1741-7007-6-32","volume":"6","author":"GJ Fraser","year":"2008","unstructured":"Fraser GJ, Bloomquist RF, Streelman JT : A periodic pattern generator for dental diversity. BMC Biol 2008; 6: 32.","journal-title":"BMC Biol"},{"key":"BFejhg200918_CR26","doi-asserted-by":"publisher","first-page":"2875","DOI":"10.1242\/dev.01163","volume":"131","author":"MT Cobourne","year":"2004","unstructured":"Cobourne MT, Miletich I, Sharpe PT : Restriction of sonic hedgehog signalling during early tooth development. Development 2004; 131: 2875\u20132885.","journal-title":"Development"},{"key":"BFejhg200918_CR27","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1126\/science.273.5275.613","volume":"273","author":"A Vortkamp","year":"1996","unstructured":"Vortkamp A, Lee K, Lanske B, Segre GV, Kronenberg HM, Tabin CJ : Regulation of rate of cartilage differentiation by Indian hedgehog and PTH-related protein. Science 1996; 273: 613\u2013622.","journal-title":"Science"},{"key":"BFejhg200918_CR28","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1002\/ajmg.1320220414","volume":"22","author":"WR Osebold","year":"1985","unstructured":"Osebold WR, Remondini DJ, Lester EL, Spranger JW, Opitz JM : An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei. Am J Med Genet 1985; 22: 791\u2013809.","journal-title":"Am J Med Genet"},{"key":"BFejhg200918_CR29","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1097\/00125817-200109000-00004","volume":"3","author":"ME Dixon","year":"2001","unstructured":"Dixon ME, Armstrong P, Stevens DB, Bamshad M : Identical mutations in NOG can cause either tarsal\/carpal coalition syndrome or proximal symphalangism. Genet Med 2001; 3: 349\u2013353.","journal-title":"Genet Med"},{"key":"BFejhg200918_CR30","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1086\/302249","volume":"64","author":"Y Gong","year":"1999","unstructured":"Gong Y, Chitayat D, Kerr B et al: Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation. Am J Hum Genet 1999; 64: 570\u2013577.","journal-title":"Am J Hum Genet"},{"key":"BFejhg200918_CR31","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1002\/humu.9016","volume":"19","author":"M Mangino","year":"2002","unstructured":"Mangino M, Flex E, Digilio MC, Giannotti A, Dallapiccola B : Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism. Hum Mutat 2002; 19: 308.","journal-title":"Hum Mutat"},{"key":"BFejhg200918_CR32","doi-asserted-by":"publisher","first-page":"447","DOI":"10.1034\/j.1399-0004.2001.600607.x","volume":"60","author":"T Takahashi","year":"2001","unstructured":"Takahashi T, Takahashi I, Komatsu M et al: Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. Clin Genet 2001; 60: 447\u2013451.","journal-title":"Clin Genet"},{"key":"BFejhg200918_CR33","first-page":"200","volume":"7","author":"RJ Gorlin","year":"1971","unstructured":"Gorlin RJ, Sedano HO, Odont : Cryptodontic brachymetacarpalia. Birth Defects Orig Artic Ser 1971; 7: 200\u2013203.","journal-title":"Birth Defects Orig Artic Ser"},{"key":"BFejhg200918_CR34","doi-asserted-by":"publisher","first-page":"e78","DOI":"10.1136\/jmg.2003.013904","volume":"41","author":"M Holder-Espinasse","year":"2004","unstructured":"Holder-Espinasse M, Escande F, Mayrargue E et al: Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations. J Med Genet 2004; 41: e78.","journal-title":"J Med Genet"},{"key":"BFejhg200918_CR35","doi-asserted-by":"publisher","first-page":"430","DOI":"10.1136\/jmg.14.6.430","volume":"14","author":"AG Hunter","year":"1977","unstructured":"Hunter AG, McAlpine PJ, Rudd NL, Fraser FC : A \u2018new\u2019 syndrome of mental retardation with characteristic facies and brachyphalangy. J Med Genet 1977; 14: 430\u2013437.","journal-title":"J Med Genet"},{"key":"BFejhg200918_CR36","first-page":"645","volume":"117","author":"M Robinow","year":"1969","unstructured":"Robinow M, Silverman FN, Smith HD : A newly recognized dwarfing syndrome. Am J Dis Child 1969; 117: 645\u2013651.","journal-title":"Am J Dis Child"},{"key":"BFejhg200918_CR37","doi-asserted-by":"publisher","first-page":"1246","DOI":"10.1002\/ajmg.a.31728","volume":"143","author":"G Zhu","year":"2007","unstructured":"Zhu G, Ke X, Liu Q et al: Recurrence of the D100N mutation in a Chinese family with brachydactyly type A1: evidence for a mutational hot spot in the Indian hedgehog gene. Am J Med Genet A 2007; 143: 1246\u20131248.","journal-title":"Am J Med Genet A"}],"container-title":["European Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ejhg200918.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg200918","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ejhg200918.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T16:58:11Z","timestamp":1684429091000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ejhg200918"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,3,11]]},"references-count":37,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2009,9]]}},"alternative-id":["BFejhg200918"],"URL":"https:\/\/doi.org\/10.1038\/ejhg.2009.18","relation":{},"ISSN":["1018-4813","1476-5438"],"issn-type":[{"value":"1018-4813","type":"print"},{"value":"1476-5438","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,3,11]]}}}