{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T12:08:32Z","timestamp":1793362112741,"version":"4.5.0"},"reference-count":55,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":565,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2012,1]]},"DOI":"10.1016\/j.ajhg.2011.11.014","type":"journal-article","created":{"date-parts":[[2011,12,22]],"date-time":"2011-12-22T11:01:12Z","timestamp":1324551672000},"page":"76-85","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":90,"title":["Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome"],"prefix":"10.1016","volume":"90","author":[{"given":"Ersan","family":"Kalay","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Orhan","family":"Sezgin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vasant","family":"Chellappa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehmet","family":"Mutlu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heba","family":"Morsy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hulya","family":"Kayserili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elmar","family":"Kreiger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aysegul","family":"Cansu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bayram","family":"Toraman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ebtesam\u00a0Mohammed","family":"Abdalla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yakup","family":"Aslan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiv","family":"Pillai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nurten\u00a0A.","family":"Akarsu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2011.11.014_bib1","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1002\/ajmg.1320120404","article-title":"Limb pterygium syndromes: A review and report of eleven patients","volume":"12","author":"Hall","year":"1982","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2011.11.014_bib2","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1002\/ajmg.1320170410","article-title":"The lethal multiple pterygium syndromes","volume":"17","author":"Hall","year":"1984","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2011.11.014_bib3","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1542\/peds.41.2.503","article-title":"Popliteal pterygium syndrome. A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies","volume":"41","author":"Gorlin","year":"1968","journal-title":"Pediatrics"},{"key":"10.1016\/j.ajhg.2011.11.014_bib4","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1136\/jmg.15.1.35","article-title":"Popliteal pterygium syndrome: A phenotypic and genetic analysis","volume":"15","author":"Escobar","year":"1978","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2011.11.014_bib5","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/ng985","article-title":"Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes","volume":"32","author":"Kondo","year":"2002","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.11.014_bib6","doi-asserted-by":"crossref","first-page":"2262","DOI":"10.1002\/ajmg.a.33338","article-title":"Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome","volume":"152A","author":"Matsuzawa","year":"2010","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2011.11.014_bib7","doi-asserted-by":"crossref","first-page":"222","DOI":"10.1136\/jmg.9.2.222","article-title":"Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form","volume":"9","author":"Bartsocas","year":"1972","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2011.11.014_bib8","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1002\/pd.560","article-title":"First-trimester diagnosis of Bartsocas-Papas syndrome (BPS) by transvaginal ultrasound: Case report and review of the literature","volume":"23","author":"Dolan","year":"2003","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.ajhg.2011.11.014_bib9","first-page":"34","article-title":"Craniofacial characteristics evidenced in Bartsocas-Papas syndrome from birth to five years. Case report","volume":"72","author":"Maganzini","year":"2006","journal-title":"N. Y. State Dent. J."},{"key":"10.1016\/j.ajhg.2011.11.014_bib10","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1002\/1096-8628(20000731)93:3<194::AID-AJMG6>3.0.CO;2-X","article-title":"Autosomal recessive multiple pterygium syndrome: A new variant?","volume":"93","author":"Aslan","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2011.11.014_bib11","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1002\/ajmg.1320390109","article-title":"Bartsocas-Papas syndrome: Three familial cases from Spain","volume":"39","author":"Mart\u00ednez-Fr\u00edas","year":"1991","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2011.11.014_bib12","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/(SICI)1096-8628(19980827)79:1<16::AID-AJMG5>3.0.CO;2-G","article-title":"Bartsocas-Papas syndrome in an Arab family with four affected sibs: Further characterization","volume":"79","author":"Massoud","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2011.11.014_bib13","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/ajmg.a.20308","article-title":"Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome","volume":"123A","author":"Veenstra-Knol","year":"2003","journal-title":"Am. J. Med. Genet. A."},{"key":"10.1016\/j.ajhg.2011.11.014_bib14","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/j.ejmg.2009.02.001","article-title":"\u201cRing leg deformity\u201d in Bartsocas-Pappas syndrome","volume":"52","author":"Kalender","year":"2009","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ajhg.2011.11.014_bib15","doi-asserted-by":"crossref","first-page":"1424","DOI":"10.1016\/S0960-9822(02)01075-8","article-title":"RIP4 is an ankyrin repeat-containing kinase essential for keratinocyte differentiation","volume":"12","author":"Holland","year":"2002","journal-title":"Curr. Biol."},{"key":"10.1016\/j.ajhg.2011.11.014_bib16","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1038\/jid.2009.223","article-title":"RIP4 regulates epidermal differentiation and cutaneous inflammation","volume":"130","author":"Rountree","year":"2010","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.ajhg.2011.11.014_bib17","first-page":"365","article-title":"Primer3 on the WWW for general users and for biologist programmers","volume":"132","author":"Rozen","year":"2000","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ajhg.2011.11.014_bib18","doi-asserted-by":"crossref","DOI":"10.1155\/2011\/428714","article-title":"Bartsocas-Papas Syndrome: Unusual Findings in the First Reported Egyptian Family","volume":"2011","author":"Abdalla","year":"2011","journal-title":"Case Reports in Genetics."},{"key":"10.1016\/j.ajhg.2011.11.014_bib19","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.tibs.2005.01.003","article-title":"The RIP kinases: Crucial\u00a0integrators of cellular stress","volume":"30","author":"Meylan","year":"2005","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.ajhg.2011.11.014_bib20","doi-asserted-by":"crossref","first-page":"513","DOI":"10.1016\/0092-8674(95)90072-1","article-title":"RIP: A novel protein containing a death domain that interacts with Fas\/APO-1 (CD95) in yeast and causes cell death","volume":"81","author":"Stanger","year":"1995","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2011.11.014_bib21","doi-asserted-by":"crossref","first-page":"36350","DOI":"10.1074\/jbc.M004771200","article-title":"DIK, a novel protein kinase that interacts with protein kinase Cdelta. Cloning, characterization, and gene analysis","volume":"275","author":"Bhr","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2011.11.014_bib22","doi-asserted-by":"crossref","first-page":"21737","DOI":"10.1074\/jbc.M008069200","article-title":"Protein kinase C-associated kinase (PKK),\u00a0a novel membrane-associated, ankyrin repeat-containing protein kinase","volume":"276","author":"Chen","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2011.11.014_bib23","doi-asserted-by":"crossref","first-page":"1201","DOI":"10.1093\/embo-reports\/kvf236","article-title":"RIP4 (DIK\/PKK), a novel member of the RIP kinase family, activates NF-kappa B and is processed during apoptosis","volume":"3","author":"Meylan","year":"2002","journal-title":"EMBO Rep."},{"key":"10.1016\/j.ajhg.2011.11.014_bib24","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1002\/prot.10104","article-title":"Increasing the precision of comparative models with YASARA NOVA\u2014a self-parameterizing force field","volume":"47","author":"Krieger","year":"2002","journal-title":"Proteins"},{"issue":"Suppl 9","key":"10.1016\/j.ajhg.2011.11.014_bib25","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1002\/prot.22570","article-title":"Improving physical realism, stereochemistry, and side-chain accuracy in homology modeling: Four approaches that performed well in CASP8","volume":"77","author":"Krieger","year":"2009","journal-title":"Proteins"},{"key":"10.1016\/j.ajhg.2011.11.014_bib26","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1021\/jm101157q","article-title":"Identification of a potent Janus kinase 3 inhibitor with high selectivity within the Janus kinase family","volume":"54","author":"Thoma","year":"2011","journal-title":"J. Med. Chem."},{"key":"10.1016\/j.ajhg.2011.11.014_bib27","doi-asserted-by":"crossref","first-page":"7972","DOI":"10.1021\/bi100409w","article-title":"The crystal structure of a constitutively active mutant RON kinase suggests an intramolecular autophosphorylation hypothesis","volume":"49","author":"Wang","year":"2010","journal-title":"Biochemistry"},{"issue":"Web Server issue","key":"10.1016\/j.ajhg.2011.11.014_bib28","doi-asserted-by":"crossref","first-page":"W382","DOI":"10.1093\/nar\/gki387","article-title":"The FoldX web server: An online force field","volume":"33","author":"Schymkowitz","year":"2005","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.ajhg.2011.11.014_bib29","doi-asserted-by":"crossref","first-page":"21526","DOI":"10.1074\/jbc.M301575200","article-title":"Protein kinase C-associated kinase can activate NFkappaB in both a kinase-dependent and a kinase-independent manner","volume":"278","author":"Moran","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2011.11.014_bib30","doi-asserted-by":"crossref","first-page":"31871","DOI":"10.1074\/jbc.M202222200","article-title":"Protein kinase C-associated kinase (PKK) mediates Bcl10-independent NF-kappa B activation induced by phorbol ester","volume":"277","author":"Muto","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2011.11.014_bib31","doi-asserted-by":"crossref","first-page":"538","DOI":"10.1038\/sj.jid.5700588","article-title":"Regulation of NF-kappaB activity and keratinocyte differentiation by the RIP4 protein: Implications for cutaneous wound repair","volume":"127","author":"Adams","year":"2007","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.ajhg.2011.11.014_bib32","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.yexcr.2009.10.006","article-title":"RIP4 is a target of multiple signal transduction pathways in keratinocytes: Implications for epidermal differentiation and cutaneous wound repair","volume":"316","author":"Adams","year":"2010","journal-title":"Exp. Cell Res."},{"key":"10.1016\/j.ajhg.2011.11.014_bib33","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1016\/S0092-8674(00)81318-5","article-title":"NF-kappa B: Ten years after","volume":"87","author":"Baeuerle","year":"1996","journal-title":"Cell"},{"key":"10.1016\/j.ajhg.2011.11.014_bib34","doi-asserted-by":"crossref","first-page":"4589","DOI":"10.1242\/jcs.02579","article-title":"The NF-kappaB pathway","volume":"118","author":"Moynagh","year":"2005","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.ajhg.2011.11.014_bib35","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1006\/smim.2000.0210","article-title":"The I kappa B kinase (IKK) and NF-kappa B: Key elements of proinflammatory signalling","volume":"12","author":"Karin","year":"2000","journal-title":"Semin. Immunol."},{"key":"10.1016\/j.ajhg.2011.11.014_bib36","doi-asserted-by":"crossref","first-page":"1360","DOI":"10.1126\/science.281.5381.1360","article-title":"Direct phosphorylation of IkappaB by IKKalpha and IKKbeta: Discrimination between free and NF-kappaB-bound substrate","volume":"281","author":"Zandi","year":"1998","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2011.11.014_bib37","doi-asserted-by":"crossref","first-page":"2723","DOI":"10.1101\/gad.9.22.2723","article-title":"Rel\/NF-kappa B\/I kappa B family: Intimate tales of association and dissociation","volume":"9","author":"Verma","year":"1995","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2011.11.014_bib38","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1038\/33435","article-title":"Inhibition of NF-kappaB activity results in disruption of the apical ectodermal ridge and aberrant limb morphogenesis","volume":"392","author":"Bushdid","year":"1998","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2011.11.014_bib39","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1038\/33429","article-title":"Role of Rel\/NF-kappaB transcription factors during the outgrowth of the vertebrate limb","volume":"392","author":"Kanegae","year":"1998","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2011.11.014_bib40","doi-asserted-by":"crossref","first-page":"857","DOI":"10.1387\/ijdb.072416mf","article-title":"The Apical Ectodermal Ridge: Morphological aspects and signaling pathways","volume":"52","author":"Fernandez-Teran","year":"2008","journal-title":"Int. J. Dev. Biol."},{"key":"10.1016\/j.ajhg.2011.11.014_bib41","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1126\/science.284.5412.316","article-title":"Abnormal morphogenesis but intact IKK activation in mice lacking the IKKalpha subunit of IkappaB kinase","volume":"284","author":"Hu","year":"1999","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2011.11.014_bib42","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1126\/science.284.5412.313","article-title":"Limb and skin abnormalities in mice lacking IKKalpha","volume":"284","author":"Takeda","year":"1999","journal-title":"Science"},{"key":"10.1016\/j.ajhg.2011.11.014_bib43","doi-asserted-by":"crossref","first-page":"1322","DOI":"10.1101\/gad.13.10.1322","article-title":"IKK1-deficient mice exhibit abnormal development of skin and skeleton","volume":"13","author":"Li","year":"1999","journal-title":"Genes Dev."},{"key":"10.1016\/j.ajhg.2011.11.014_bib44","doi-asserted-by":"crossref","first-page":"710","DOI":"10.1038\/35070605","article-title":"IKKalpha controls formation of the epidermis independently of NF-kappaB","volume":"410","author":"Hu","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2011.11.014_bib45","doi-asserted-by":"crossref","first-page":"660","DOI":"10.1038\/nature02421","article-title":"IkappaB kinase-alpha acts in the epidermis to control skeletal and craniofacial morphogenesis","volume":"428","author":"Sil","year":"2004","journal-title":"Nature"},{"key":"10.1016\/j.ajhg.2011.11.014_bib46","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1038\/ni.2065","article-title":"Crosstalk in NF-\u03baB signaling pathways","volume":"12","author":"Oeckinghaus","year":"2011","journal-title":"Nat. Immunol."},{"key":"10.1016\/j.ajhg.2011.11.014_bib47","doi-asserted-by":"crossref","first-page":"1631","DOI":"10.1056\/NEJMoa0911698","article-title":"Mutant CHUK and severe fetal encasement malformation","volume":"363","author":"Lahtela","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.ajhg.2011.11.014_bib48","doi-asserted-by":"crossref","first-page":"1329","DOI":"10.1038\/ng1894","article-title":"Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch","volume":"38","author":"Richardson","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2011.11.014_bib49","article-title":"Interferon Regulatory Factor 6 Is Necessary, but Not Sufficient, for Keratinocyte Differentiation","author":"Biggs","year":"2011","journal-title":"J. Invest. Dermatol."},{"key":"10.1016\/j.ajhg.2011.11.014_bib50","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1242\/dev.02325","article-title":"p63 regulates multiple signalling pathways required for ectodermal organogenesis and differentiation","volume":"133","author":"Laurikkala","year":"2006","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2011.11.014_bib51","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/j.ydbio.2008.06.030","article-title":"Facial clefting in Tp63 deficient mice results from altered Bmp4, Fgf8 and Shh signaling","volume":"321","author":"Thomason","year":"2008","journal-title":"Dev. Biol."},{"key":"10.1016\/j.ajhg.2011.11.014_bib52","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1086\/341450","article-title":"Splitting p63","volume":"71","author":"van Bokhoven","year":"2002","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.ajhg.2011.11.014_bib53","doi-asserted-by":"crossref","first-page":"4617","DOI":"10.1242\/jcs.03265","article-title":"p63 is upstream of IKK alpha in epidermal development","volume":"119","author":"Candi","year":"2006","journal-title":"J.\u00a0Cell Sci."},{"key":"10.1016\/j.ajhg.2011.11.014_bib54","doi-asserted-by":"crossref","first-page":"3688","DOI":"10.1158\/0008-5472.CAN-10-3445","article-title":"\u0394Np63 versatilely regulates a Broad NF-\u03baB gene program and promotes squamous epithelial proliferation, migration, and inflammation","volume":"71","author":"Yang","year":"2011","journal-title":"Cancer Res."},{"key":"10.1016\/j.ajhg.2011.11.014_bib55","doi-asserted-by":"crossref","first-page":"6867","DOI":"10.1158\/0008-5472.CAN-11-2460","article-title":"TNF-\u03b1 Promotes c-REL\/DeltaNp63\u03b1 Interaction and TAp73 Dissociation from Key Genes That Mediate Growth Arrest and Apoptosis in Head and Neck Cancer","volume":"71","author":"Lu","year":"2011","journal-title":"Cancer Res."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929711004927?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929711004927?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T07:10:55Z","timestamp":1757574655000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929711004927"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,1]]},"references-count":55,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,1]]}},"alternative-id":["S0002929711004927"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2011.11.014","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2012,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2011.11.014","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2011.11.013","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}