{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:51Z","timestamp":1786976811754,"version":"build-2736575974"},"reference-count":140,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2022,12,14]],"date-time":"2022-12-14T00:00:00Z","timestamp":1670976000000},"content-version":"vor","delay-in-days":13,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Noonan, Costello, and cardio\u2010facio\u2010cutaneous syndrome are neurodevelopmental disorders belonging to the RASopathies, a group of syndromes caused by alterations in the RAS\/MAPK pathway. They are characterized by similar clinical features, among which feeding difficulties, growth delay, and gastro\u2010intestinal disorders are frequent, causing pain and discomfort in patients. Hereby, we describe the main nutritional and gastrointestinal issues reported in individuals with RASopathies, specifically in Noonan syndrome, Noonan syndrome\u2010related disorders, Costello, and cardio\u2010facio\u2010cutaneous syndromes. Fifty percent of children with Noonan syndrome may experience feeding difficulties that usually have a spontaneous resolution by the second year of life, especially associated to genes different than\n                    <jats:italic>PTPN11<\/jats:italic>\n                    and\n                    <jats:italic>SOS1<\/jats:italic>\n                    . More severe manifestations often require artificial enteral nutrition in infancy are observed in Costello syndrome, mostly associated to c.34G&gt;A substitution in the\n                    <jats:italic>HRAS<\/jats:italic>\n                    gene. In cardio\u2010facio\u2010cutaneous syndrome feeding issues are usually present (90\u2013100% of cases), especially in individuals carrying variants in\n                    <jats:italic>BRAF<\/jats:italic>\n                    ,\n                    <jats:italic>MAP2K1<\/jats:italic>\n                    , and\n                    <jats:italic>MAP2K2<\/jats:italic>\n                    genes, and artificial enteral intervention, even after scholar age, may be required. Moreover, disorders associated with gastrointestinal dysmotility as gastro\u2010esophageal reflux and constipation are commonly reported in all the above\u2010mentioned syndromes. Given the impact on growth and on the quality of life of these patients, early evaluation and prompt personalized management plans are fundamental.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.c.32019","type":"journal-article","created":{"date-parts":[[2022,12,14]],"date-time":"2022-12-14T11:25:00Z","timestamp":1671017100000},"page":"478-493","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Management of nutritional and gastrointestinal issues in\n                    <scp>RASopathies<\/scp>\n                    : A narrative review"],"prefix":"10.1002","volume":"190","author":[{"given":"Roberta","family":"Onesimo","sequence":"first","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Giorgio","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1697-6337","authenticated-orcid":false,"given":"Germana","family":"Viscogliosi","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elisabetta","family":"Sforza","sequence":"additional","affiliation":[{"name":"DIpartimento Scienze della Vita e Sanit\u00e0 Pubblica Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliza","family":"Kuczynska","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaia","family":"Margiotta","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariella","family":"Iademarco","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Proli","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donato","family":"Rigante","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli, IRCCS  Rome Italy"},{"name":"DIpartimento Scienze della Vita e Sanit\u00e0 Pubblica Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Zampino","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli, IRCCS  Rome Italy"},{"name":"DIpartimento Scienze della Vita e Sanit\u00e0 Pubblica Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4089-637X","authenticated-orcid":false,"given":"Chiara","family":"Leoni","sequence":"additional","affiliation":[{"name":"Center for Rare Diseases and Birth Defects, Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario A. Gemelli, IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,14]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35292"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36374"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30295"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33518"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.65"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2007.00548.x"},{"key":"e_1_2_12_8_1","unstructured":"American Speech\u2010Language\u2010Hearing Association. (2022 August).Pediatric feeding and swallowing. (Practice Portal). Available fromwww.asha.org\/practice-portal\/clinical-topics\/pediatric-dysphagia\/."},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.114"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1641"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.054460"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2013-3251"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2782"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.2804"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes12091316"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38178"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-015-0209-4"},{"issue":"5","key":"e_1_2_12_18_1","first-page":"267","article-title":"Polipo fibroide gastrico in sindrome di Costello [gastric fibroid polyp in a 4\u2010month\u2010old girl with Costello syndrome]","volume":"29","author":"Campus R.","year":"2007","journal-title":"La Pediatria Medica e Chirurgica: Medical and Surgical Pediatrics"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/ocr.12144"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1324128111"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38118"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.10.001"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ddrr.19"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38649"},{"key":"e_1_2_12_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.285"},{"key":"e_1_2_12_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/mds.20741"},{"key":"e_1_2_12_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31076"},{"key":"e_1_2_12_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.annder.2022.03.011"},{"key":"e_1_2_12_29_1","doi-asserted-by":"publisher","DOI":"10.1159\/000331266"},{"key":"e_1_2_12_30_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-007-0558-0"},{"key":"e_1_2_12_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-020-03664-x"},{"key":"e_1_2_12_32_1","doi-asserted-by":"publisher","DOI":"10.1111\/jan.13140"},{"key":"e_1_2_12_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37082"},{"key":"e_1_2_12_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.4051"},{"key":"e_1_2_12_35_1","volume-title":"GeneReviews\u00ae","author":"Gelb B. D.","year":"2007"},{"key":"e_1_2_12_36_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37655"},{"key":"e_1_2_12_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001113)95:2<135::AID-AJMG8>3.0.CO;2-J"},{"key":"e_1_2_12_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2021.101280"},{"key":"e_1_2_12_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35449"},{"key":"e_1_2_12_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32227"},{"key":"e_1_2_12_41_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31815"},{"key":"e_1_2_12_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61270"},{"key":"e_1_2_12_43_1","volume-title":"GeneReviews\u00ae","author":"Gripp K. W.","year":"2006"},{"key":"e_1_2_12_44_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0042-121551"},{"key":"e_1_2_12_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.10019"},{"key":"e_1_2_12_46_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-004-1306-5"},{"key":"e_1_2_12_47_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.91225"},{"key":"e_1_2_12_48_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37596"},{"key":"e_1_2_12_49_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33147"},{"issue":"3","key":"e_1_2_12_50_1","first-page":"353","article-title":"Costello syndrome in two siblings and minor manifestations in their mother. Further evidence for autosomal dominant inheritance?","volume":"13","author":"Ioan D. M.","year":"2002","journal-title":"Genetic Counseling"},{"key":"e_1_2_12_51_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2015.254"},{"key":"e_1_2_12_52_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.249"},{"key":"e_1_2_12_53_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10236"},{"key":"e_1_2_12_54_1","doi-asserted-by":"publisher","DOI":"10.1297\/cpe.29.195"},{"key":"e_1_2_12_55_1","doi-asserted-by":"publisher","DOI":"10.1038\/bjc.2015.75"},{"key":"e_1_2_12_56_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000001401"},{"key":"e_1_2_12_57_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.6133"},{"key":"e_1_2_12_58_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62529"},{"key":"e_1_2_12_59_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2017.12.006"},{"key":"e_1_2_12_60_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61812"},{"key":"e_1_2_12_61_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62917"},{"key":"e_1_2_12_62_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2022.104439"},{"key":"e_1_2_12_63_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2015.11.076"},{"key":"e_1_2_12_64_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01674-y"},{"key":"e_1_2_12_65_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61111"},{"key":"e_1_2_12_66_1","doi-asserted-by":"publisher","DOI":"10.2147\/JMDH.S291757"},{"key":"e_1_2_12_67_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-022-01139-1"},{"key":"e_1_2_12_68_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31765"},{"key":"e_1_2_12_69_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2014.12.013"},{"key":"e_1_2_12_70_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35519"},{"key":"e_1_2_12_71_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.06.015"},{"key":"e_1_2_12_72_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10923"},{"key":"e_1_2_12_73_1","doi-asserted-by":"publisher","DOI":"10.1002\/jpen.1504"},{"key":"e_1_2_12_74_1","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19970613)70:3<284::aid-ajmg13>3.0.co;2-h"},{"key":"e_1_2_12_75_1","doi-asserted-by":"publisher","DOI":"10.1177\/0148607113479972"},{"key":"e_1_2_12_76_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.0960-7692.2001.00485.x"},{"key":"e_1_2_12_77_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.09.007"},{"key":"e_1_2_12_78_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.06.018"},{"key":"e_1_2_12_79_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200935"},{"key":"e_1_2_12_80_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36737"},{"key":"e_1_2_12_81_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31658"},{"key":"e_1_2_12_82_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.050450"},{"key":"e_1_2_12_83_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1749"},{"key":"e_1_2_12_84_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5798"},{"key":"e_1_2_12_85_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejcn.2010.39"},{"key":"e_1_2_12_86_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.076836"},{"key":"e_1_2_12_87_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807302615"},{"key":"e_1_2_12_88_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2017.09.009"},{"key":"e_1_2_12_89_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32674"},{"key":"e_1_2_12_90_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gim.2022.04.004"},{"key":"e_1_2_12_91_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2013-3189"},{"key":"e_1_2_12_92_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2019.00388"},{"key":"e_1_2_12_93_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.1.54"},{"key":"e_1_2_12_94_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35290"},{"key":"e_1_2_12_95_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32110"},{"key":"e_1_2_12_96_1","volume-title":"GeneReviews\u00ae","author":"Rauen K. A.","year":"2007"},{"key":"e_1_2_12_97_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genom-091212-153523"},{"key":"e_1_2_12_98_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30294"},{"key":"e_1_2_12_99_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.042796"},{"key":"e_1_2_12_100_1","volume-title":"GeneReviews\u00ae","author":"Roberts A. E.","year":"2001"},{"key":"e_1_2_12_101_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61023-X"},{"key":"e_1_2_12_102_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1926"},{"key":"e_1_2_12_103_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1653977"},{"key":"e_1_2_12_104_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1124642"},{"key":"e_1_2_12_105_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-3207"},{"key":"e_1_2_12_106_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000001646"},{"key":"e_1_2_12_107_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000001889"},{"key":"e_1_2_12_108_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35534"},{"key":"e_1_2_12_109_1","doi-asserted-by":"publisher","DOI":"10.1159\/000504374"},{"key":"e_1_2_12_110_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20955"},{"key":"e_1_2_12_111_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1748"},{"key":"e_1_2_12_112_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38174"},{"key":"e_1_2_12_113_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-022-04460-5"},{"key":"e_1_2_12_114_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.81.1.28"},{"key":"e_1_2_12_115_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.67.2.178"},{"key":"e_1_2_12_116_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.2006.104547"},{"key":"e_1_2_12_117_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61394"},{"key":"e_1_2_12_118_1","doi-asserted-by":"publisher","DOI":"10.2344\/anpr-67-01-07"},{"key":"e_1_2_12_119_1","doi-asserted-by":"publisher","DOI":"10.1159\/000381375"},{"key":"e_1_2_12_120_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35639"},{"key":"e_1_2_12_121_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2018-105746"},{"key":"e_1_2_12_122_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0012162206001927"},{"key":"e_1_2_12_123_1","doi-asserted-by":"publisher","DOI":"10.3390\/children9060905"},{"key":"e_1_2_12_124_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000000266"},{"key":"e_1_2_12_125_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng772"},{"key":"e_1_2_12_126_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2009.04.001"},{"key":"e_1_2_12_127_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw191"},{"key":"e_1_2_12_128_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2021-247513"},{"key":"e_1_2_12_129_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm11030754"},{"key":"e_1_2_12_130_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990115)82:2<187::AID-AJMG17>3.0.CO;2-2"},{"key":"e_1_2_12_131_1","doi-asserted-by":"publisher","DOI":"10.1159\/000510171"},{"key":"e_1_2_12_132_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62620"},{"key":"e_1_2_12_133_1","doi-asserted-by":"publisher","DOI":"10.2350\/14-05-1488-OA.1"},{"key":"e_1_2_12_134_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30747"},{"key":"e_1_2_12_135_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38556"},{"key":"e_1_2_12_136_1","doi-asserted-by":"publisher","DOI":"10.1097\/MED.0000000000000380"},{"key":"e_1_2_12_137_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2007.00894.x"},{"key":"e_1_2_12_138_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470210"},{"key":"e_1_2_12_139_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20431"},{"key":"e_1_2_12_140_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2003.11.032"},{"key":"e_1_2_12_141_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuropharm.2015.11.023"}],"container-title":["American Journal of Medical Genetics Part C: Seminars in Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.32019","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.c.32019","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.c.32019","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T13:14:29Z","timestamp":1692537269000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.c.32019"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12]]},"references-count":140,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1002\/ajmg.c.32019"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.c.32019","archive":["Portico"],"relation":{},"ISSN":["1552-4868","1552-4876"],"issn-type":[{"value":"1552-4868","type":"print"},{"value":"1552-4876","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12]]},"assertion":[{"value":"2022-09-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-11-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}