{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T11:33:16Z","timestamp":1791891196605,"version":"4.3.4"},"reference-count":65,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,1,1]],"date-time":"2022-01-01T00:00:00Z","timestamp":1640995200000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","theclinics.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Heart Failure Clinics"],"published-print":{"date-parts":[[2022,1]]},"DOI":"10.1016\/j.hfc.2021.07.009","type":"journal-article","created":{"date-parts":[[2021,10,25]],"date-time":"2021-10-25T14:13:20Z","timestamp":1635171200000},"page":"155-164","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":36,"title":["Clinical Manifestations of 22q11.2 Deletion Syndrome"],"prefix":"10.1016","volume":"18","author":[{"given":"Annapaola","family":"Cirillo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Lioncino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annachiara","family":"Maratea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Passariello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adelaide","family":"Fusco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiorella","family":"Fratta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emanuele","family":"Monda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Caiazza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Signore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Augusto","family":"Esposito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anwar","family":"Baban","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Versacci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Putotto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Marino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Pignata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia","family":"Cirillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuliana","family":"Giardino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Berardo","family":"Sarubbi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Limongelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Giovanna","family":"Russo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.hfc.2021.07.009_bib1","doi-asserted-by":"crossref","first-page":"2058","DOI":"10.1002\/ajmg.a.40637","article-title":"What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia","volume":"176A","author":"Campbell","year":"2018","journal-title":"Am J Med Genet A"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.009_bib2","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1136\/archdischild-2018-316634","article-title":"Genetic characterisation of 22q11.2 variations and prevalence in patients with congenital heart disease [published correction appears in Arch Dis Child. 2020 May 28;:]","volume":"105","author":"Hou","year":"2020","journal-title":"Arch Dis Child"},{"issue":"3","key":"10.1016\/j.hfc.2021.07.009_bib3","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1002\/ajmg.1320640304","article-title":"Autosomal dominant \u201cOpitz\u201d GBBB syndrome due to a 22q11.2 deletion","volume":"64","author":"McDonald-McGinn","year":"1996","journal-title":"Am J Med Genet"},{"issue":"3","key":"10.1016\/j.hfc.2021.07.009_bib4","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1002\/ajmg.1320530320","article-title":"Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype","volume":"53","author":"Giannotti","year":"1994","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.hfc.2021.07.009_bib5","doi-asserted-by":"crossref","first-page":"15071","DOI":"10.1038\/nrdp.2015.71","article-title":"22q11.2 deletion syndrome","volume":"1","author":"McDonald-McGinn","year":"2015","journal-title":"Nat Rev Dis Primers"},{"key":"10.1016\/j.hfc.2021.07.009_bib6","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1016\/S0140-6736(07)61601-8","article-title":"Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes","volume":"370","author":"Kobrynski","year":"2018","journal-title":"Lancet"},{"issue":"10","key":"10.1016\/j.hfc.2021.07.009_bib7","doi-asserted-by":"crossref","first-page":"2070","DOI":"10.1002\/ajmg.a.40504","article-title":"Molecular genetics of 22q11.2 deletion syndrome","volume":"176","author":"Morrow","year":"2018","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.hfc.2021.07.009_bib8","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s11882-018-0823-5","article-title":"Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome)","volume":"18","author":"Kuo1","year":"2018","journal-title":"Curr Allergy Asthma Rep"},{"key":"10.1016\/j.hfc.2021.07.009_bib9","doi-asserted-by":"crossref","DOI":"10.1002\/ajmg.c.31774","article-title":"22q11.2 deletion syndrome and congenital heart disease","author":"Goldmuntz","year":"2020","journal-title":"Am J Med Genet C: Semin Med Genet"},{"key":"10.1016\/j.hfc.2021.07.009_bib10","doi-asserted-by":"crossref","first-page":"2519","DOI":"10.1101\/gr.1549503","article-title":"Shuffling of Genes Within Low-Copy Repeats on 22q11 (LCR22) by Alu-Mediated Recombination Events During Evolution","volume":"13","author":"Babcock","year":"2003","journal-title":"Genome Res"},{"issue":"13","key":"10.1016\/j.hfc.2021.07.009_bib11","doi-asserted-by":"crossref","first-page":"3217","DOI":"10.1242\/dev.01174","article-title":"Tbx1 has a dual role in the morphogenesis of the cardiac outflow tract","volume":"131","author":"Xu","year":"2004","journal-title":"Development"},{"key":"10.1016\/j.hfc.2021.07.009_bib12","doi-asserted-by":"crossref","DOI":"10.1002\/dvdy.20686","article-title":"Tbx1 is regulated by forkhead proteins in the secondary heart field","author":"Maeda","year":"2006","journal-title":"Developmental Dyn"},{"key":"10.1016\/j.hfc.2021.07.009_bib13","doi-asserted-by":"crossref","first-page":"1837","DOI":"10.3389\/fimmu.2020.01837","article-title":"T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features","volume":"11","author":"Giardino","year":"2020","journal-title":"Front Immunol"},{"issue":"9","key":"10.1016\/j.hfc.2021.07.009_bib14","doi-asserted-by":"crossref","first-page":"3112","DOI":"10.1016\/j.jaip.2020.06.051","article-title":"Clinical Phenotype, Immunological Abnormalities, and Genomic Findings in Patients with DiGeorge Spectrum Phenotype without 22q11.2 Deletion","volume":"8","author":"Cirillo","year":"2020","journal-title":"J\u00a0Allergy Clin Immunol Pract"},{"key":"10.1016\/j.hfc.2021.07.009_bib15","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1016\/S0092-8674(01)00247-1","article-title":"TBX1 is Responsible for Cardiovascular Defects in Velo-Cardio-Facial\/DiGeorge Syndrome","volume":"104","author":"Merscher","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.hfc.2021.07.009_bib16","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1038\/35065105","article-title":"Tbx1 Haploinsufficieny in the DiGeorge Syndrome Region Causes Aortic Arch Defects in Mice","volume":"410","author":"Lindsay","year":"2001","journal-title":"Nature"},{"key":"10.1016\/j.hfc.2021.07.009_bib17","doi-asserted-by":"crossref","first-page":"e0211170","DOI":"10.1371\/journal.pone.0211170","article-title":"Left Pulmonary Artery in 22q11.2 Deletion Syndrome. Echocardiographic Evaluation in Patients without Cardiac Defects and Role of Tbx1 in Mice","volume":"14","author":"Mastromoro","year":"2019","journal-title":"PLoS One"},{"key":"10.1016\/j.hfc.2021.07.009_bib18","doi-asserted-by":"crossref","DOI":"10.1186\/1755-8166-5-13","article-title":"Chromosome 22q11.2 microdeletion in monozygotic twins with discordant phenotype and deletion size","author":"Halder","year":"2012","journal-title":"Mol Cytogenet"},{"key":"10.1016\/j.hfc.2021.07.009_bib19","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1471-2350-15-1","article-title":"Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects","volume":"15","author":"Cirillo","year":"2014","journal-title":"BMC Med Genet"},{"key":"10.1016\/j.hfc.2021.07.009_bib20","first-page":"1","article-title":"Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndrome","author":"Schindewolf","year":"2018","journal-title":"Am J Med Genet"},{"issue":"5","key":"10.1016\/j.hfc.2021.07.009_bib21","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1002\/pd.4321","article-title":"A\u00a0French collaborative survey of 272 fetuses with 22q11.2 deletion: Ultrasound findings, fetal autopsies and pregnancy outcomes","volume":"34","author":"Besseau-Ayasse","year":"2014","journal-title":"Prenatal Diagn"},{"issue":"1","key":"10.1016\/j.hfc.2021.07.009_bib22","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1097\/00125817-200101000-00010","article-title":"Anatomic patterns of conotruncal defects associated with deletion 22q11","volume":"3","author":"Marino","year":"2001","journal-title":"Genet Med"},{"issue":"2","key":"10.1016\/j.hfc.2021.07.009_bib23","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1007\/s002469900414","article-title":"Aortic arch anomalies associated with chromosome 22q11 deletion (CATCH 22)","volume":"20","author":"Momma","year":"1999","journal-title":"Pediatr Cardiol"},{"issue":"5","key":"10.1016\/j.hfc.2021.07.009_bib24","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1002\/ajmg.a.32770","article-title":"Aortic root dilation in patients with 22q11.2 deletion syndrome","volume":"149A","author":"John","year":"2009","journal-title":"Am J Med Genet A"},{"issue":"10","key":"10.1016\/j.hfc.2021.07.009_bib25","doi-asserted-by":"crossref","first-page":"2087","DOI":"10.1002\/ajmg.a.38662","article-title":"Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers","volume":"176","author":"Unolt","year":"2018","journal-title":"Am J Med Genet A"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.009_bib26","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/S0735-1097(97)00240-4","article-title":"Truncus arteriosus communis associated with chromosome 22q11 deletion","volume":"30","author":"Momma","year":"1997","journal-title":"J\u00a0Am Coll Cardiol"},{"issue":"3","key":"10.1016\/j.hfc.2021.07.009_bib27","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1016\/S0002-9149(99)00297-0","article-title":"Deletion 22q11 in patients with interrupted aortic arch","volume":"84","author":"Marino","year":"1999","journal-title":"Am J Cardiol"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.009_bib28","doi-asserted-by":"crossref","first-page":"428","DOI":"10.1017\/S104795110000980X","article-title":"Deficiency of the infundibular septum in patients with interrupted aortic arch and del 22q11","volume":"10","author":"Marino","year":"2000","journal-title":"Cardiol Young"},{"key":"10.1016\/j.hfc.2021.07.009_bib29","doi-asserted-by":"crossref","first-page":"2707","DOI":"10.1002\/ajmg.a.36711","article-title":"Central 22q11.2 Deletions","volume":"164A","author":"Rump","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.hfc.2021.07.009_bib30","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1016\/j.ajhg.2019.11.010","article-title":"Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects","volume":"106","author":"Zhao","year":"2020","journal-title":"Am J Hum.Genet"},{"key":"10.1016\/j.hfc.2021.07.009_bib31","doi-asserted-by":"crossref","first-page":"1617","DOI":"10.1016\/j.amjcard.2010.01.333","article-title":"Cardiovascular anomalies associated with chromosome 22q11.2 deletion syndrome","volume":"105","author":"Momma","year":"2010","journal-title":"Am J Cardiol"},{"key":"10.1016\/j.hfc.2021.07.009_bib32","doi-asserted-by":"crossref","first-page":"e005041","DOI":"10.1136\/bmjopen-2014-005041","article-title":"Case fatality rate and associated factors in patients with 22q11 microdeletion syndrome: a retrospective cohort study","volume":"4","author":"Repetto","year":"2014","journal-title":"BMJ Open"},{"key":"10.1016\/j.hfc.2021.07.009_bib33","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1136\/jmg.2008.063800","article-title":"Premature death in adults with 22q11.2 deletion syndrome","volume":"46","author":"Bassett","year":"2009","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.hfc.2021.07.009_bib34","doi-asserted-by":"crossref","first-page":"2328","DOI":"10.1038\/s41436-019-0509-y","article-title":"All-cause mortality and survival in adults with 22q11.2 deletion syndrome","volume":"21","author":"Van","year":"2019","journal-title":"Genet Med"},{"key":"10.1016\/j.hfc.2021.07.009_bib35","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/S1054-8807(00)00050-8","article-title":"Congenital Heart Disease and Genetic Syndromes: Specific Correlation between Cardiac Phenotype and Genotype","volume":"9","author":"Marino","year":"2000","journal-title":"Cardiovasc Pathol"},{"issue":"3","key":"10.1016\/j.hfc.2021.07.009_bib36","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.jtcvs.2009.03.009","article-title":"Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects","volume":"138","author":"Michielon","year":"2009","journal-title":"J\u00a0Thorac Cardiovasc Surg"},{"issue":"8","key":"10.1016\/j.hfc.2021.07.009_bib37","first-page":"624","article-title":"Conotruncal heart defects: impact of genetic syndromes on immediate operative mortality","volume":"5","author":"Anaclerio","year":"2004","journal-title":"Ital Heart J"},{"key":"10.1016\/j.hfc.2021.07.009_bib38","doi-asserted-by":"crossref","first-page":"1092","DOI":"10.1016\/j.jtcvs.2010.07.087","article-title":"Determinants of Outcome After Surgical Treatment of Pulmonary Atresia with Ventricular Septal Defect and Major Aortopulmonary Collateral Arteries","volume":"140","author":"Carotti","year":"2010","journal-title":"J\u00a0Thorac Cardiovasc Surg"},{"key":"10.1016\/j.hfc.2021.07.009_bib39","doi-asserted-by":"crossref","first-page":"1135","DOI":"10.1007\/s00431-007-0645-2","article-title":"Chromosome 22q11.2 Microdeletion in Children with Conotruncal Heart Defects:Frequency, Associated Cardiovascular Anomalies, and Outcome Following Cardiac Surgery","volume":"167","author":"Ziolkowska","year":"2008","journal-title":"Eur J Pediatr"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.009_bib40","doi-asserted-by":"crossref","first-page":"868","DOI":"10.1016\/j.jtcvs.2012.12.028","article-title":"22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot","volume":"146","author":"Mercer-Rosa","year":"2013","journal-title":"J\u00a0Thorac Cardiovasc Surg"},{"key":"10.1016\/j.hfc.2021.07.009_bib41","doi-asserted-by":"crossref","first-page":"e653","DOI":"10.1161\/CIR.0000000000000606","article-title":"Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association","volume":"138","author":"Pierpont","year":"2018","journal-title":"Circulation"},{"issue":"11","key":"10.1016\/j.hfc.2021.07.009_bib42","doi-asserted-by":"crossref","first-page":"2724","DOI":"10.1002\/ajmg.a.36720","article-title":"Fetal phenotype associated with the 22q11 deletion","volume":"164A","author":"No\u00ebl","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.hfc.2021.07.009_bib43","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1097\/00125817-200101000-00006","article-title":"Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Casta wide FISHing net!","volume":"3","author":"McDonald-McGinn","year":"2001","journal-title":"Genet Med"},{"issue":"6","key":"10.1016\/j.hfc.2021.07.009_bib44","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1016\/j.jpeds.2014.01.056","article-title":"Italian Network for primary immunodeficiencies","volume":"164","author":"Cancrini","year":"2014","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.hfc.2021.07.009_bib45","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/s00018-011-0842-z","article-title":"Immunological aspects of 22q11.2 deletion syndrome","volume":"69","author":"Gennery","year":"2011","journal-title":"Cell. Mol. Life Sci."},{"key":"10.1016\/j.hfc.2021.07.009_bib46","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1067\/S0022-3476(03)00248-8","article-title":"Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome","volume":"143","author":"Lawrence","year":"2003","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.hfc.2021.07.009_bib47","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1093\/hmg\/4.4.763","article-title":"identification of patients with Bernard Soulier Syndrome and a delection in the D George-VeloCardioFacial chromosomal region in 22q11.2","volume":"4","author":"Budarf","year":"1995","journal-title":"Hum Mol Genet"},{"key":"10.1016\/j.hfc.2021.07.009_bib48","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1002\/ajh.20139","article-title":"Dysplastic changes in the peripheral blood of children with microdelection 22q11.2","volume":"77","author":"Ozbek","year":"2004","journal-title":"Am J Hematol"},{"key":"10.1016\/j.hfc.2021.07.009_bib49","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1016\/j.cancergen.2014.05.007","article-title":"Malignant Rhabdoid tumor of the blood and ganglioglioma in 14 y.o male with a germline 22q11.2 deletion","volume":"207","author":"Bosse","year":"2014","journal-title":"Cancer Genet"},{"issue":"24","key":"10.1016\/j.hfc.2021.07.009_bib50","doi-asserted-by":"crossref","first-page":"2586","DOI":"10.1182\/blood.2018885244","article-title":"Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single center","volume":"133","author":"Giardino","year":"2019","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.hfc.2021.07.009_bib51","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1542\/peds.85.4.526","article-title":"Di George anomaly and velocardiofacial syndrome","volume":"85","author":"Stevens","year":"1990","journal-title":"Pediatrics"},{"key":"10.1016\/j.hfc.2021.07.009_bib52","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1016\/j.ijporl.2012.10.009","article-title":"A\u00a0candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients","volume":"77","author":"Widdershoven","year":"2013","journal-title":"Int J Pediatr Otorhinol"},{"key":"10.1016\/j.hfc.2021.07.009_bib53","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/MD.0b013e3182060469","article-title":"Chomosome 22q11.2 deletion syndrome","volume":"90","author":"McDonald-McGinn & Sullivan","year":"2011","journal-title":"Medicine"},{"key":"10.1016\/j.hfc.2021.07.009_bib54","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1597\/05-070.1","article-title":"Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndrome","volume":"43","author":"Driscoll","year":"2006","journal-title":"Cleft Palate cranio Facial J"},{"key":"10.1016\/j.hfc.2021.07.009_bib55","doi-asserted-by":"crossref","first-page":"1184","DOI":"10.1002\/ajmg.a.61152","article-title":"Palatal evaluation and treatment in 22q11.2 deletion syndrome","volume":"179","author":"Jackson","year":"2019","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.hfc.2021.07.009_bib56","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1016\/j.cps.2013.12.010","article-title":"Surgical management of velopharyngeal insufficiency","volume":"41","author":"Gart","year":"2014","journal-title":"Clin Plast Surg"},{"key":"10.1016\/j.hfc.2021.07.009_bib57","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1097\/PRS.0b013e3182402e52","article-title":"Impact of 22q deletion syndrome on speech outcomes following primary surgery for submocous cleft palate","volume":"129","author":"Bezuhly","year":"2012","journal-title":"Plast Reconstr Surg"},{"issue":"Suppl 2","key":"10.1016\/j.hfc.2021.07.009_bib58","doi-asserted-by":"crossref","first-page":"S130","DOI":"10.1097\/SAP.0000000000000286","article-title":"A\u00a035 year experience with syndromic cleft palate repair operative outcomes and long-term speech function","volume":"73","author":"Basta","year":"2014","journal-title":"Ann Plast Surg"},{"issue":"10","key":"10.1016\/j.hfc.2021.07.009_bib59","doi-asserted-by":"crossref","first-page":"2128","DOI":"10.1002\/ajmg.a.40518","article-title":"Otolaryngological features in a cohort of patients affected with 22q11.2 deletion syndrome: A monocentric survey","volume":"176","author":"Grasso","year":"2018","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.hfc.2021.07.009_bib60","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1159\/000209252","article-title":"Structural and functional causes of hypernasality in velocardiofacial syndrome. A pilot Study","volume":"61","author":"Baylis","year":"2009","journal-title":"Folia Phoniatr Logop"},{"key":"10.1016\/j.hfc.2021.07.009_bib61","doi-asserted-by":"crossref","first-page":"190","DOI":"10.1111\/cen.12466","article-title":"Prevalence of Hypocaemia and it\u2019s associated features in 22q11.2 dletion syndrome","volume":"81","author":"Cheung","year":"2014","journal-title":"Clin Endocr"},{"issue":"3","key":"10.1016\/j.hfc.2021.07.009_bib62","doi-asserted-by":"crossref","first-page":"274","DOI":"10.3109\/00365521.2013.855814","article-title":"Gastrointestinal involvement in patients affected with 22q11.2 deletion syndrome","volume":"49","author":"Giuliana","year":"2014","journal-title":"Scand J Gastroenterol"},{"key":"10.1016\/j.hfc.2021.07.009_bib63","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1002\/ajmg.a.32156","article-title":"Sclerocornea associated with the chromosome 22q11.2 deletion syndorme","volume":"146","author":"Binenbaum","year":"2008","journal-title":"Am J Med Genet"},{"issue":"6","key":"10.1016\/j.hfc.2021.07.009_bib64","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1016\/j.jpeds.2014.01.056","article-title":"Clinical Features and Follow-Up in Patients with 22q11.2 Deletion Syndrome","volume":"164","author":"Cancrini","year":"2014","journal-title":"J\u00a0Pediatr"},{"key":"10.1016\/j.hfc.2021.07.009_bib65","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1001\/jamapsychiatry.2014.2671","article-title":"Cognitive decline preceding the onset of psychosis in patient with 22q11.2 deletion syndrome","volume":"72","author":"Vorstman","year":"2015","journal-title":"JAMA psychiatry"}],"container-title":["Heart Failure Clinics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1551713621000787?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1551713621000787?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T08:43:19Z","timestamp":1761554599000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1551713621000787"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1]]},"references-count":65,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2022,1]]}},"alternative-id":["S1551713621000787"],"URL":"https:\/\/doi.org\/10.1016\/j.hfc.2021.07.009","relation":{},"ISSN":["1551-7136"],"issn-type":[{"value":"1551-7136","type":"print"}],"subject":[],"published":{"date-parts":[[2022,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical Manifestations of 22q11.2 Deletion Syndrome","name":"articletitle","label":"Article Title"},{"value":"Heart Failure Clinics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.hfc.2021.07.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}