{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T10:21:04Z","timestamp":1783938064271,"version":"3.55.0"},"reference-count":43,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T00:00:00Z","timestamp":1559001600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"DOI":"10.3389\/fped.2019.00210","type":"journal-article","created":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T04:39:00Z","timestamp":1559018340000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":3,"title":["Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations"],"prefix":"10.3389","volume":"7","author":[{"given":"Elisa Adele","family":"Colombo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hatice","family":"Mutlu-Albayrak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yousef","family":"Shafeghati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mine","family":"Balasar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliette","family":"Piard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Davide","family":"Gentilini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Maria","family":"Di Blasio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Gervasini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lionel","family":"Van Maldergem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Larizza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2019,5,28]]},"reference":[{"key":"B1","article-title":"Baller-Gerold Syndrome","volume-title":"GeneReviews\u00ae","author":"Van Maldergem","year":"1993"},{"key":"B2","article-title":"Roberts Syndrome","volume-title":"GeneReviews\u00ae","author":"Gordillo","year":"1993"},{"key":"B3","doi-asserted-by":"publisher","first-page":"161","DOI":"10.1097\/00019605-199504000-00009","article-title":"Osteosarcoma in a 16-year-old boy with Baller-Gerold syndrome","volume":"4","author":"Preis","year":"1995","journal-title":"Clin Dysmorphol."},{"key":"B4","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1002\/ajmg.a.32736","article-title":"A patient with Baller-Gerold syndrome and midline NK\/T lymphoma","author":"Debeljak","year":"2009","journal-title":"Am J Med Genet A."},{"key":"B5","doi-asserted-by":"publisher","first-page":"98","DOI":"10.1002\/ajmg.1320500123","article-title":"Fanconi anemia in a child previously diagnosed as Baller-Gerold syndrome","volume":"50","author":"Farrell","year":"1994","journal-title":"Am J Med Genet."},{"key":"B6","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1002\/(SICI)1096-8628(19960102)61:1<65::AID-AJMG12>3.0.CO;2-U","article-title":"Fanconi anemia in brothers initially diagnosed with VACTERL association with hydrocephalus, and subsequently with Baller-Gerold syndrome","volume":"61","author":"Rossbach","year":"1996","journal-title":"Am J Med Genet."},{"key":"B7","doi-asserted-by":"publisher","first-page":"170","DOI":"10.1002\/(SICI)1096-8628(19990115)82:2<170::AID-AJMG14>3.0.CO;2-X","article-title":"TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome","volume":"82","author":"Gripp","year":"1999","journal-title":"Am J Med Genet."},{"key":"B8","doi-asserted-by":"publisher","first-page":"323","DOI":"10.1002\/ajmg.10065","article-title":"Another TWIST on Baller-Gerold syndrome","volume":"104","author":"Seto","year":"2001","journal-title":"Am J Med Genet."},{"key":"B9","doi-asserted-by":"publisher","first-page":"244","DOI":"10.1111\/cge.12361","article-title":"Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson\/Baller-Gerold syndromes","volume":"87","author":"Piard","year":"2015","journal-title":"Clin Genet."},{"key":"B10","doi-asserted-by":"publisher","first-page":"148","DOI":"10.1136\/jmg.2005.031781","article-title":"Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene","volume":"43","author":"Van Maldergem","year":"2006","journal-title":"J Med Genet."},{"key":"B11","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1038\/ejhg.2008.154","article-title":"The mutation spectrum in RECQL4 diseases","volume":"17","author":"Siitonen","year":"2009","journal-title":"Eur J Hum Genet."},{"key":"B12","doi-asserted-by":"publisher","first-page":"3222","DOI":"10.3892\/mmr.2017.6408","article-title":"Nationwide survey of Baller-Gerold syndrome in Japanese population","volume":"15","author":"Kaneko","year":"2017","journal-title":"Mol Med Rep."},{"key":"B13","doi-asserted-by":"publisher","first-page":"1117","DOI":"10.1086\/498695","article-title":"Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation","volume":"77","author":"Sch\u00fcle","year":"2005","journal-title":"Am J Hum Genet."},{"key":"B14","doi-asserted-by":"publisher","first-page":"472","DOI":"10.1002\/ajmg.a.33261","article-title":"The Roberts syndrome\/SC phocomelia spectrum\u2013a case report of an adult with review of the literature","author":"Goh","year":"2010","journal-title":"Am J Med Genet A."},{"key":"B15","doi-asserted-by":"publisher","first-page":"17","DOI":"10.1002\/ajmg.1320040104","article-title":"Cytogenetic findings in Roberts-SC phocomelia syndrome(s)","volume":"4","author":"Tomkins","year":"1979","journal-title":"Am J Med Genet."},{"key":"B16","doi-asserted-by":"publisher","first-page":"245","DOI":"10.1126\/science.1140637","article-title":"DNA double-strand breaks trigger genome-wide sister-chromatid cohesion through Eco1 (Ctf7)","volume":"317","author":"Unal","year":"2007","journal-title":"Science."},{"key":"B17","doi-asserted-by":"publisher","first-page":"E1103","DOI":"10.3390\/ijms19041103","article-title":"Rothmund-Thomson Syndrome: insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome","volume":"19","author":"Colombo","year":"2018","journal-title":"Int J Mol Sci."},{"key":"B18","doi-asserted-by":"publisher","first-page":"589","DOI":"10.1093\/bioinformatics\/btp698","article-title":"Fast and accurate long-read alignment with Burrows-Wheeler transform","volume":"26","author":"Li","year":"2010","journal-title":"Bioinformatics."},{"key":"B19","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","article-title":"The sequence alignment\/map format and SAMtools","volume":"25","author":"Li","year":"2009","journal-title":"Bioinformatics."},{"key":"B20","doi-asserted-by":"publisher","first-page":"491","DOI":"10.1038\/ng.806","article-title":"A framework for variation discovery and genotyping using next-generation DNA sequencing data","volume":"43","author":"DePristo","year":"2011","journal-title":"Nat Genet."},{"key":"B21","doi-asserted-by":"publisher","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature."},{"key":"B22","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A global reference for human genetic variation","volume":"526","author":"The","year":"2015","journal-title":"Nature."},{"key":"B23","doi-asserted-by":"publisher","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods."},{"key":"B24","doi-asserted-by":"publisher","first-page":"3812","DOI":"10.1093\/nar\/gkg509","article-title":"SIFT: predicting amino acid changes that affect protein function","volume":"31","author":"Ng","year":"2003","journal-title":"Nucleic Acids Res."},{"key":"B25","doi-asserted-by":"publisher","first-page":"564","DOI":"10.1002\/humu.22981","article-title":"HGVS Recommendations for the Description of Sequence Variants: 2016 Update","volume":"37","author":"den Dunnen","year":"2016","journal-title":"Hum Mutat."},{"key":"B26","doi-asserted-by":"publisher","first-page":"2172","DOI":"10.1093\/hmg\/ddn116","article-title":"The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity","volume":"17","author":"Gordillo","year":"2008","journal-title":"Hum Mol Genet."},{"key":"B27","first-page":"457","article-title":"The Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2","volume":"64","author":"Dogan","year":"2014","journal-title":"J Pak Med Assoc."},{"key":"B28","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1186\/s13039-014-0059-6","article-title":"3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome","volume":"7","author":"Dupont","year":"2014","journal-title":"Mol Cytogenet."},{"key":"B29","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1136\/jmg.2009.068395","article-title":"Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome","volume":"47","author":"Vega","year":"2010","journal-title":"J Med Genet."},{"key":"B30","doi-asserted-by":"publisher","first-page":"926","DOI":"10.1097\/bpo.0b013e31815a6045","article-title":"Femorotibial ankylosis in a child with Roberts syndrome: an \u226aaggressive\u226b approach to habilitation","volume":"27","author":"Eylon","year":"2007","journal-title":"J Pediatr Orthop."},{"key":"B31","doi-asserted-by":"publisher","first-page":"468","DOI":"10.1038\/ng1548","article-title":"Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion","volume":"37","author":"Vega","year":"2005","journal-title":"Nat Genet."},{"key":"B32","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1136\/jmg.29.4.266","article-title":"The Baller-Gerold syndrome","volume":"29","author":"Van Maldergem","year":"1992","journal-title":"J Med Genet."},{"key":"B33","doi-asserted-by":"publisher","first-page":"303","DOI":"10.1097\/00019605-200009040-00018","article-title":"Overlap between Baller-Gerold and Rothmund-Thomson syndrome","volume":"9","author":"M\u00e9garban\u00e9","year":"2000","journal-title":"Clin Dysmorphol."},{"key":"B34","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1111\/cga.12151","article-title":"Expanding the mutation and clinical spectrum of Roberts syndrome","volume":"56","author":"Afifi","year":"2016","journal-title":"Congenit Anom."},{"key":"B35","doi-asserted-by":"publisher","first-page":"403","DOI":"10.29271\/jcpsp.2018.05.403","article-title":"A novel frameshift mutation in ESCO2 gene in roberts syndrome","volume":"28","author":"Mengen","year":"2018","journal-title":"J Coll Physicians Surg Pak."},{"key":"B36","doi-asserted-by":"publisher","first-page":"4757","DOI":"10.4238\/2015.May.11.8","article-title":"Identification of novel compound heterozygous RECQL4 mutations and prenatal diagnosis of Baller-Gerold syndrome: a case report","volume":"14","author":"Cao","year":"2015","journal-title":"Genet Mol Res."},{"key":"B37","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1016\/j.ejmg.2009.10.005","article-title":"The importance of chromosome studies in Roberts syndrome\/SC phocomelia and other cohesinopathies","volume":"53","author":"Gerkes","year":"2010","journal-title":"Eur J Med Genet."},{"key":"B38","first-page":"585","article-title":"Intrapartum diagnostic of Roberts syndrome - case presentation","volume":"56","author":"Socolov","year":"2015","journal-title":"Rom J Morphol Embryol."},{"key":"B39","first-page":"299","article-title":"Expanding the phenotypic spectrum of the Baller-Gerold syndrome","volume":"14","author":"Temtamy","year":"2003","journal-title":"Genet Couns."},{"key":"B40","doi-asserted-by":"publisher","first-page":"1157","DOI":"10.1038\/ng.3123","article-title":"Cohesin embraces new phenotypes","volume":"46","author":"Krantz","year":"2014","journal-title":"Nat Genet."},{"key":"B41","doi-asserted-by":"publisher","first-page":"e1000119","DOI":"10.1371\/journal.pbio.1000119","article-title":"Transcriptional dysregulation in NIPBL and cohesin mutant human cells","volume":"7","author":"Liu","year":"2009","journal-title":"PLoS Biol."},{"key":"B42","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1016\/j.canlet.2005.07.042","article-title":"Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping","volume":"232","author":"Larizza","year":"2006","journal-title":"Cancer Lett."},{"key":"B43","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1007\/BF00344159","article-title":"Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism","volume":"100","author":"Jabs","year":"1991","journal-title":"Chromosoma."}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2019.00210\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,28]],"date-time":"2019-05-28T04:39:03Z","timestamp":1559018343000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fped.2019.00210\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,28]]},"references-count":43,"alternative-id":["10.3389\/fped.2019.00210"],"URL":"https:\/\/doi.org\/10.3389\/fped.2019.00210","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,28]]},"article-number":"210"}}