{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:28Z","timestamp":1753861768744,"version":"3.41.2"},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T00:00:00Z","timestamp":1707868800000},"content-version":"vor","delay-in-days":0,"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 A"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>CHARGE syndrome is a rare autosomal dominant syndrome characterized by multiple congenital anomalies including coloboma, heart defects, ear anomalies, and developmental delay, caused by pathogenic variants in the <jats:italic>CHD7<\/jats:italic> gene. The discovery of the molecular basis of this syndrome increased the number of cases reported and expanded the phenotype and clinical variability. Limb anomalies are occasional clinical findings in this syndrome, present in about 30% of reported cases. The occurrence of limb anomalies in this syndrome suggests that it should be considered as part of the phenotypic spectrum. Here, we describe an individual with CHARGE syndrome presenting unilateral monodactyly.<\/jats:p>","DOI":"10.1002\/ajmg.a.63561","type":"journal-article","created":{"date-parts":[[2024,2,14]],"date-time":"2024-02-14T08:45:13Z","timestamp":1707900313000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Monodactyly in a patient with <scp>CHARGE<\/scp> syndrome: An additional case report"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4355-6677","authenticated-orcid":false,"given":"Henrique Regonaschi","family":"Serigatto","sequence":"first","affiliation":[{"name":"Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roseli Maria","family":"Zechi\u2010Ceide","sequence":"additional","affiliation":[{"name":"Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabella","family":"Parizotto","sequence":"additional","affiliation":[{"name":"Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0252-5452","authenticated-orcid":false,"given":"Nancy Mizue","family":"Kokitsu\u2010Nakata","sequence":"additional","affiliation":[{"name":"Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo  S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,2,14]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32376"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62600"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1089\/gtmb.2010.0101"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20526"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.03.017"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-019-0813-z"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14363"},{"key":"e_1_2_10_10_1","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Deardorff M. A.","year":"2005"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31840"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10981"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37435"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(79)80513-2"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.3928\/0191-3913-19790301-10"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036061"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2018.33"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-022-29633-6"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(81)80454-4"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036160"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.104103"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32008"},{"key":"e_1_2_10_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31592"},{"key":"e_1_2_10_24_1","first-page":"1993","volume-title":"GeneReviews\u00ae [Internet]","author":"Ravenswaaij\u2010Arts C. M.","year":"2006"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30559"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1097\/gim.0b013e318156e68e"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63561","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,30]],"date-time":"2024-04-30T19:01:55Z","timestamp":1714503715000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63561"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,14]]},"references-count":26,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,6]]}},"alternative-id":["10.1002\/ajmg.a.63561"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63561","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2024,2,14]]},"assertion":[{"value":"2023-10-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-02-14","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63561"}}