{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T09:58:26Z","timestamp":1767175106709,"version":"build-2238731810"},"reference-count":13,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T00:00:00Z","timestamp":1725494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2024,9,5]],"date-time":"2024-09-05T00:00:00Z","timestamp":1725494400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"DOI":"10.1186\/s13256-024-04746-2","type":"journal-article","created":{"date-parts":[[2024,9,4]],"date-time":"2024-09-04T20:02:37Z","timestamp":1725480157000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Helsmoortel-Van der Aa syndrome in a 13-year-old girl with autistic spectrum disorder, dysmorphism, a right solitary kidney, and polycystic ovaries: a case report"],"prefix":"10.1186","volume":"18","author":[{"given":"Ebtesam","family":"Al-Enezi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohannad","family":"Alghamdi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khaled","family":"Al-Enezi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammed","family":"AlBalwi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Davies","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wafaa","family":"Eyaid","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,9,5]]},"reference":[{"key":"4746_CR1","doi-asserted-by":"publisher","first-page":"380","DOI":"10.1038\/ng.2899","volume":"46","author":"C Helsmoortel","year":"2014","unstructured":"Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, et\u00a0al. A SWI\/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014;46:380\u20134. https:\/\/doi.org\/10.1038\/ng.2899.","journal-title":"Nat Genet"},{"key":"4746_CR2","doi-asserted-by":"publisher","first-page":"552","DOI":"10.1016\/j.ejpn.2018.01.024","volume":"22","author":"G Pascolini","year":"2018","unstructured":"Pascolini G, Agolini E, Majore S, Novelli A, Grammatico P, Digilio MC. Helsmoortel-Van der Aa syndrome as emerging clinical diagnosis in intellectually disabled children with autistic traits and ocular involvement. Eur J Paediatr Neurol. 2018;22:552\u20137. https:\/\/doi.org\/10.1016\/j.ejpn.2018.01.024.","journal-title":"Eur J Paediatr Neurol"},{"key":"4746_CR3","doi-asserted-by":"publisher","first-page":"1283","DOI":"10.1046\/j.1471-4159.1999.0721283.x","volume":"72","author":"M Bassan","year":"1999","unstructured":"Bassan M, Zamostiano R, Davidson A, Pinhasov A, Giladi E, Perl O, et\u00a0al. Complete sequence of a novel protein containing a femtomolar-activity-dependent neuroprotective peptide. J Neurochem. 1999;72:1283\u201393. https:\/\/doi.org\/10.1046\/j.1471-4159.1999.0721283.x.","journal-title":"J Neurochem"},{"key":"4746_CR4","doi-asserted-by":"publisher","first-page":"708","DOI":"10.1074\/jbc.M007416200","volume":"276","author":"R Zamostiano","year":"2001","unstructured":"Zamostiano R, Pinhasov A, Gelber E, Steingart RA, Seroussi E, Giladi E, et\u00a0al. Cloning and characterization of the human activity-dependent neuroprotective protein. J BiolChem. 2001;276:708\u201314. https:\/\/doi.org\/10.1074\/jbc.M007416200.","journal-title":"J BiolChem"},{"key":"4746_CR5","doi-asserted-by":"publisher","first-page":"2591","DOI":"10.2174\/0929867321666140217124945","volume":"21","author":"I Magen","year":"2014","unstructured":"Magen I, Gozes I. Davunetide: peptide therapeutic in neurological disorders. Curr Med Chem. 2014;21:2591\u20138. https:\/\/doi.org\/10.2174\/0929867321666140217124945.","journal-title":"Curr Med Chem"},{"key":"4746_CR6","doi-asserted-by":"publisher","first-page":"814","DOI":"10.1016\/j.ydbio.2006.11.039","volume":"303","author":"S Mandel","year":"2007","unstructured":"Mandel S, Rechavi G, Gozes I. Activity-dependent neuroprotective protein (ADNP) differentially interacts with chromatin to regulate genes essential for embryogenesis. Dev Biol. 2007;303:814\u201324. https:\/\/doi.org\/10.1016\/j.ydbio.2006.11.039.","journal-title":"Dev Biol"},{"key":"4746_CR7","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1016\/s0165-3806(03)00162-7","volume":"144","author":"A Pinhasov","year":"2003","unstructured":"Pinhasov A, Mandel S, Torchinsky A, Giladi E, Pittel Z, Goldsweig AM, et\u00a0al. Activity-dependent neuroprotective protein: a novel gene essential for brain formation. Brain Res Dev Brain Res. 2003;144:83\u201390. https:\/\/doi.org\/10.1016\/s0165-3806(03)00162-7.","journal-title":"Brain Res Dev Brain Res"},{"key":"4746_CR8","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1230","volume":"8","author":"A Shillington","year":"2020","unstructured":"Shillington A, Pedapati E, Hopkin R, Suhrie K. Early behavioral and developmental interventions in ADNP-syndrome: a case report of SWI\/SNF-related neurodevelopmental syndrome. Mol Genet Genomic Med. 2020;8: e1230. https:\/\/doi.org\/10.1002\/mgg3.1230.","journal-title":"Mol Genet Genomic Med"},{"key":"4746_CR9","doi-asserted-by":"publisher","first-page":"587","DOI":"10.1136\/jmedgenet-2014-102444","volume":"51","author":"MF Pescosolido","year":"2014","unstructured":"Pescosolido MF, Schwede M, Johnson Harrison A, Schmidt M, Gamsiz ED, Chen WS, et\u00a0al. Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. J Med Genet. 2014;51:587\u20139. https:\/\/doi.org\/10.1136\/jmedgenet-2014-102444.","journal-title":"J Med Genet"},{"key":"4746_CR10","doi-asserted-by":"publisher","first-page":"287","DOI":"10.1016\/j.biopsych.2018.02.1173","volume":"85","author":"A Van Dijck","year":"2019","unstructured":"Van Dijck A, Vulto-van Silfhout AT, Cappuyns E, van der Werf IM, Mancini GM, Tzschach A, et\u00a0al. Clinical presentation of a complex neurodevelopmental disorder caused by mutations in ADNP. Biol Psychiatry. 2019;85:287\u201397. https:\/\/doi.org\/10.1016\/j.biopsych.2018.02.1173.","journal-title":"Biol Psychiatry"},{"key":"4746_CR11","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1016\/j.ajhg.2020.07.003","volume":"107","author":"MS Breen","year":"2020","unstructured":"Breen MS, Garg P, Tang L, Mendonca D, Levy T, Barbosa M, et\u00a0al. Episignatures stratifying Helsmoortel-Van Der Aa syndrome show modest correlation with phenotype. Am J Hum Genet. 2020;107:555\u201363. https:\/\/doi.org\/10.1016\/j.ajhg.2020.07.003.","journal-title":"Am J Hum Genet"},{"key":"4746_CR12","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1186\/s13148-019-0658-5","volume":"11","author":"EG Bend","year":"2019","unstructured":"Bend EG, Aref-Eshghi E, Everman DB, Rogers RC, Cathey SS, Prijoles EJ, et\u00a0al. Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome. Clin Epigenet. 2019;11:64. https:\/\/doi.org\/10.1186\/s13148-019-0658-5.","journal-title":"Clin Epigenet"},{"key":"4746_CR13","doi-asserted-by":"publisher","first-page":"8957","DOI":"10.3390\/ijerph18178957","volume":"18","author":"M Petruzzi","year":"2021","unstructured":"Petruzzi M, Stella A, Capra V, Contaldo M, Della VF. Oro-dental manifestations in a pediatric patient affected by Helsmoortel-Van der Aa syndrome. Int J Environ Res Public Health. 2021;18:8957. https:\/\/doi.org\/10.3390\/ijerph18178957.","journal-title":"Int J Environ Res Public Health"}],"updated-by":[{"DOI":"10.1186\/s13256-024-04838-z","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2024,10,17]],"date-time":"2024-10-17T00:00:00Z","timestamp":1729123200000}}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-024-04746-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13256-024-04746-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-024-04746-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,10,18]],"date-time":"2024-10-18T02:04:13Z","timestamp":1729217053000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-024-04746-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,5]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["4746"],"URL":"https:\/\/doi.org\/10.1186\/s13256-024-04746-2","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,5]]},"assertion":[{"value":"18 February 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 June 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 September 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 October 2024","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1186\/s13256-024-04838-z","URL":"https:\/\/doi.org\/10.1186\/s13256-024-04838-z","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The case report was reviewed and approved by the institutional review board committee of King Abdullah International Medical Research Centre with reference number RYD-23-419812-11537. The consent to participate in the study and the publication of photographs was obtained from the patient\u2019s guardian.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patient\u2019s legal guardian for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"422"}}