{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,4]],"date-time":"2025-11-04T23:44:21Z","timestamp":1762299861032},"reference-count":28,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,7,28]],"date-time":"2021-07-28T00:00:00Z","timestamp":1627430400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,7,28]],"date-time":"2021-07-28T00:00:00Z","timestamp":1627430400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001843","name":"DST | Science and Engineering Research Board","doi-asserted-by":"publisher","award":["SB\/YS\/LS-46\/2013"],"award-info":[{"award-number":["SB\/YS\/LS-46\/2013"]}],"id":[{"id":"10.13039\/501100001843","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2022,1]]},"DOI":"10.1038\/s10038-021-00963-5","type":"journal-article","created":{"date-parts":[[2021,7,28]],"date-time":"2021-07-28T06:02:58Z","timestamp":1627452178000},"page":"43-49","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders"],"prefix":"10.1038","volume":"67","author":[{"given":"Rashmi","family":"Patel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Subodh Kumar","family":"Singh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Visweswar","family":"Bhattacharya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akhtar","family":"Ali","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,7,28]]},"reference":[{"key":"963_CR1","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1093\/oxfordjournals.aje.a121356","volume":"94","author":"Hay S.","year":"1971","unstructured":"Hay S. Incidence of selected congenital malformations in iowa. Am J Epidemiol [Internet]. 1971;94:572\u201384. [cited 2020 May 23] Available from:","journal-title":"Am J Epidemiol [Internet]."},{"key":"963_CR2","doi-asserted-by":"publisher","first-page":"817","DOI":"10.1038\/ejhg.2012.14","volume":"20","author":"S Malik","year":"2012","unstructured":"Malik S. Syndactyly: phenotypes, genetics and current classification. Eur J Hum Genet [Internet]. 2012;20:817\u201324. [cited 2020 May 22] Available from:","journal-title":"Eur J Hum Genet [Internet]."},{"key":"963_CR3","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1002\/ajmg.1320050406","volume":"5","author":"EE Castilla","year":"1980","unstructured":"Castilla EE, Paz JE, Orioli-Parreiras IM, Opitz JM, Hermann J. Syndactyly: frequency of specific types. Am J Med Genet [Internet]. 1980;5:357\u201364. https:\/\/doi.org\/10.1002\/ajmg.1320050406. [cited 2020 May 23]Available from","journal-title":"Am J Med Genet [Internet]"},{"key":"963_CR4","doi-asserted-by":"publisher","first-page":"473","DOI":"10.3892\/mmr.2017.6576","volume":"16","author":"H Deng","year":"2017","unstructured":"Deng H, Tan T, He Q, Lin Q, Yang Z, Zhu A, et al. Identification of a missense HOXD13 mutation in a Chinese family with syndactyly type I-c using exome sequencing. Mol Med Rep. 2017;16:473\u20137.","journal-title":"Mol Med Rep."},{"key":"963_CR5","doi-asserted-by":"crossref","unstructured":"Jamsheer A, Zemojtel T, Kolanczyk M, Stricker S, Hecht J, Krawitz P. et al. Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4\/5 fusion. 2013;50:579\u201384 [cited 2020 May 23]. Available from: http:\/\/jmg.bmj.com\/.","DOI":"10.1136\/jmedgenet-2013-101659"},{"key":"963_CR6","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1016\/j.cca.2020.03.017","volume":"506","author":"NT Ngoc","year":"2020","unstructured":"Ngoc NT, Duong NT, Quynh DH, Ton ND, Duc HH, Huong LTM, et al. Identification of novel missense mutations associated with non-syndromic syndactyly in two vietnamese trios by whole exome sequencing. Clin Chim Acta.2020;506:16\u201321.","journal-title":"Clin Chim Acta."},{"key":"963_CR7","doi-asserted-by":"crossref","unstructured":"Dai L, Liu D, Song M, Xu X, Xiong G, Yang K, et al. Mutations in the homeodomain of HOXD13 cause syndactyly type 1-c in two Chinese families. PLoS One. 2014;9:e96192.","DOI":"10.1371\/journal.pone.0096192"},{"key":"963_CR8","unstructured":"Sutton VR, van Bokhoven H. TP63-Related Disorders [Internet]. GeneReviews\u00ae. 1993 [cited 2020 May 23]. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK43797\/."},{"key":"963_CR9","doi-asserted-by":"crossref","unstructured":"Barrow LL, van Bokhoven H, Daack-Hirsch S, Andersen T, van Beersum SEC, Gorlin R, et al. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. J Med Genet [Internet]. 2002 Aug 1 [cited 2020 May 23]; 39:559\u201366. Available from: http:\/\/www.jmedgenet.com.","DOI":"10.1136\/jmg.39.8.559"},{"key":"963_CR10","doi-asserted-by":"publisher","first-page":"408","DOI":"10.1086\/346090","volume":"72","author":"WA Paznekas","year":"2003","unstructured":"Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, et al. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003;72:408\u201318.","journal-title":"Am J Hum Genet"},{"key":"963_CR11","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1002\/pros.20904","volume":"69","author":"JK Parsons","year":"2009","unstructured":"Parsons JK, Saria EA, Nakayama M, Vessella RL, Sawyers CL, Isaacs WB, et al. Comprehensive mutational analysis and mRNA isoform quantification of TP63 in normal and neoplastic human prostate cells. Prostate [Internet]. 2009;69:559\u201369. [cited 2020 Jul 4] Available from: \/pmc\/articles\/PMC2875878\/?report=abstract","journal-title":"Prostate [Internet]."},{"key":"963_CR12","doi-asserted-by":"publisher","first-page":"361","DOI":"10.1086\/511387","volume":"80","author":"X Zhao","year":"2007","unstructured":"Zhao X, Sun M, Zhao J, Leyva JA, Zhu H, Yang W, et al. Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. Am J Hum Genet. 2007;80:361\u201371.","journal-title":"Am J Hum Genet"},{"key":"963_CR13","doi-asserted-by":"publisher","first-page":"615","DOI":"10.1002\/ajmg.a.37464","volume":"170","author":"DM Ibrahim","year":"2016","unstructured":"Ibrahim DM, Tayebi N, Knaus A, Stiege AC, Sahebzamani A, Hecht J, et al. A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. Am J Med Genet Part A. 2016;170:615\u201321.","journal-title":"Am J Med Genet Part A."},{"key":"963_CR14","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1002\/dvdy.24037","volume":"243","author":"N Brison","year":"2014","unstructured":"Brison N, Debeer P, Tylzanowski P. Joining the fingers: a HOXD13 story. Dev Dyn [Internet]. 2014;243:37\u201348. https:\/\/doi.org\/10.1002\/dvdy.24037. [cited 2020 Jul 4]Available from","journal-title":"Dev Dyn [Internet]."},{"key":"963_CR15","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1097\/MCD.0b013e32835306f0","volume":"21","author":"KJ Low","year":"2012","unstructured":"Low KJ, Nwbury-Ecob RA. Homozygous nonsense mutation in HOXD13 underlies synpolydactyly with a cleft. Clin Dysmorphol [Internet].2012;21:141\u20133. [cited 2020 Jul 4] Available from: .","journal-title":"Clin Dysmorphol [Internet]."},{"key":"963_CR16","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1002\/ajmg.a.33879","volume":"155","author":"A Ravel","year":"2011","unstructured":"Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, et al. How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability? Am J Med Genet Part A [Internet]. 2011;155:880\u20134. https:\/\/doi.org\/10.1002\/ajmg.a.33879. Available from","journal-title":"Am J Med Genet Part A [Internet]"},{"key":"963_CR17","doi-asserted-by":"publisher","unstructured":"Morgunova E, Yin Y, Das PK, Jolma A, Zhu F, Popov A, et al. Two distinct DNA sequences recognized by transcription factors represent enthalpy and entropy optima. Elife. 2018;7:e32963. https:\/\/doi.org\/10.7554\/eLife.32963.","DOI":"10.7554\/eLife.32963"},{"key":"963_CR18","doi-asserted-by":"crossref","unstructured":"Al-Qattan M. M. A Review of the Genetics and Pathogenesis of Syndactyly in Humans and Experimental Animals: A 3-Step Pathway of Pathogenesis. Vol. 2019, Biomed Res Int. 2019;15:9652649.","DOI":"10.1155\/2019\/9652649"},{"key":"963_CR19","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1007\/BF00496079","volume":"133","author":"JM Opitz","year":"1980","unstructured":"Opitz JM, Frias JL, Cohen MM. The ECP syndrome, another autosomal dominant cause of monodactylous ectrodactyly. Eur J Pediatr [Internet]. 1980;133:217\u201320. https:\/\/doi.org\/10.1007\/BF00496079. [cited 2020 May 26]Available from","journal-title":"Eur J Pediatr [Internet]"},{"key":"963_CR20","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/S0092-8674(00)81646-3","volume":"99","author":"J Celli","year":"1999","unstructured":"Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell [Internet]. 1999;99:143\u201353 [cited 2020 Jul 3] Available from https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0092867400816463","journal-title":"Cell [Internet]."},{"key":"963_CR21","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1086\/302972","volume":"67","author":"P Ianakiev","year":"2000","unstructured":"Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P. Split-hand\/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet [Internet]. 2000;67:59\u201366. [cited 2020 Jul 3] Available from https:\/\/pubmed.ncbi.nlm.nih.gov\/10839977\/","journal-title":"Am J Hum Genet [Internet]"},{"key":"963_CR22","doi-asserted-by":"publisher","first-page":"700","DOI":"10.1038\/sj.ejhg.5201004","volume":"11","author":"G Bougeard","year":"2003","unstructured":"Bougeard G, Hadj-Rabia S, Faivre L, Sarafan-Vasseur N, Fr\u00e9bourg T. The Rapp-Hodgkin syndrome results from mutations of the TP63 gene. Eur J Hum Genet [Internet]. 2003;11:700\u20134. [cited 2020 Jul 3] Available from http:\/\/www.nature.com\/ejhg","journal-title":"Eur J Hum Genet [Internet]"},{"issue":"Jul","key":"963_CR23","first-page":"1","volume":"71","author":"H van Bokhoven","year":"2002","unstructured":"van Bokhoven H, Brunner HG. Splitting p63. Am J Hum Genet [Internet]. 2002;71(Jul):1\u201313. [cited 2020 Jul 4]Available from: \/pmc\/articles\/PMC384966\/?report=abstract","journal-title":"Am J Hum Genet [Internet]"},{"key":"963_CR24","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1086\/323123","volume":"69","author":"H Van Bokhoven","year":"2001","unstructured":"Van Bokhoven H, Hamel BCJ, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PHG, et al. p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet [Internet]. 2001;69:481\u201392. [cited 2020 Jul 4]Available from:","journal-title":"Am J Hum Genet [Internet]"},{"key":"963_CR25","doi-asserted-by":"publisher","first-page":"216","DOI":"10.1046\/j.1365-2133.2002.04638.x","volume":"146","author":"AP South","year":"2002","unstructured":"South AP, Ashton GHS, Willoughby C, Ellis IH, Bleck O, Hamada T, et al. EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: Heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis. Br J Dermatol [Internet]. 2002;146:216\u201320. [cited 2020 Jul 4]Available from:","journal-title":"Br J Dermatol [Internet]"},{"key":"963_CR26","doi-asserted-by":"publisher","unstructured":"Al Ghamdi MA, Al-Qattan MM, Hadadi A, Alabdulrahman A, Almuzzaini B, Alatwi N, et al. A classification system for split-hand\/ foot malformation (SHFM): A proposal based on 3 pedigrees with WNT10B mutations. Eur J Med Genet [Internet]. 2020 Mar [cited 2021 Mar 31]; 63:103738. Available from: https:\/\/doi.org\/10.1016\/j.ejmg.2019.103738.","DOI":"10.1016\/j.ejmg.2019.103738"},{"key":"963_CR27","doi-asserted-by":"publisher","first-page":"460","DOI":"10.1038\/82609","volume":"26","author":"M Lewandoski","year":"2000","unstructured":"Lewandoski M, Sun X, Martin GR. Fgf8 signalling from the AER is essential for normal limb development. Nat Genet. 2000;26:460\u20133.","journal-title":"Nat Genet"},{"key":"963_CR28","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1242\/dev.02172","volume":"133","author":"P Lu","year":"2006","unstructured":"Lu P, Minowada G, Martin GR. Increasing Fgf4 expression in the mouse limb bud causes polysyndactyly and rescues the skeletal defects that result from loss of Fgf8 function. Dev [Internet]. 2006;133:33\u201342 [cited 2021 Apr 12]Available from https:\/\/dev.biologists.org\/content\/133\/1\/33","journal-title":"Dev [Internet]."}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00963-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00963-5","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00963-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,1,5]],"date-time":"2022-01-05T00:11:49Z","timestamp":1641341509000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00963-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,28]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["963"],"URL":"https:\/\/doi.org\/10.1038\/s10038-021-00963-5","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,28]]},"assertion":[{"value":"17 January 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 July 2021","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 July 2021","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}