{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T07:49:58Z","timestamp":1753861798598,"version":"3.41.2"},"reference-count":23,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,6,15]],"date-time":"2024-06-15T00:00:00Z","timestamp":1718409600000},"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":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Harel\u2010Yoon syndrome (HAYOS) is a unique neurodevelopmental genetic disorder characterized by hypotonia, spasticity, intellectual disability, hypertrophic cardiomyopathy, and global developmental delay. It primarily results from mutations in the <jats:italic>ATAD3A<\/jats:italic> gene, pivotal for mitochondrial function. This report presents a 5\u2010year\u2010old girl with HAYOS harboring a de novo heterozygous variant c.1064G&gt;A; (p.G355D) in <jats:italic>ATAD3A<\/jats:italic>. Her clinical profile includes delayed milestones, hypotonia, spastic quadriplegia, and ptosis. Notably, dermatologic anomalies such as hypopigmentation, caf\u00e9 au lait macules, and freckling are observed, expanding the known phenotype of HAYOS. The inclusion of dermatologic features challenges our understanding of the syndrome and emphasizes the importance of further research to elucidate the molecular connections between <jats:italic>ATAD3A<\/jats:italic> mutations and dermatologic manifestations.<\/jats:p>","DOI":"10.1002\/ajmg.a.63647","type":"journal-article","created":{"date-parts":[[2024,6,15]],"date-time":"2024-06-15T09:05:08Z","timestamp":1718442308000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Expanding the phenotype of <scp>Harel\u2010Yoon<\/scp> syndrome: A case report suggesting a genotype\/phenotype correlation"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5245-3082","authenticated-orcid":false,"given":"Jareatha","family":"Abdul\u2010Raheem","sequence":"first","affiliation":[{"name":"Department of Pediatrics Brooke Army Medical Center  Fort Sam Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elina","family":"Nikkola","sequence":"additional","affiliation":[{"name":"Fulgent Genetics  El Monte California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhenbin","family":"Chen","sequence":"additional","affiliation":[{"name":"Fulgent Genetics  El Monte California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luis","family":"Rohena","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Brooke Army Medical Center  Fort Sam Houston Texas USA"},{"name":"Department of Pediatrics UT Health San Antonio, Long School of Medicine  San Antonio Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,6,15]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.24911\/jbcgenetics\/183-1585816398"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/brv.12373"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2000.00605.x"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.12.051"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2023.03.003"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddx042"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2014.01.007"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awx094"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2020.09.002"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/exd.12484"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.00007-10"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.01.007"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000452"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2016.08.007"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20201560"},{"key":"e_1_2_12_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.10.013"},{"key":"e_1_2_12_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mito.2013.03.003"},{"key":"e_1_2_12_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jprot.2012.12.018"},{"key":"e_1_2_12_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.asjsur.2021.12.059"},{"key":"e_1_2_12_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_12_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chembiol.2005.02.014"},{"key":"e_1_2_12_23_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2023.2183223"},{"key":"e_1_2_12_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-030-12668-1_14"}],"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.63647","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,6]],"date-time":"2025-04-06T00:59:36Z","timestamp":1743901176000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63647"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,15]]},"references-count":23,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2024,10]]}},"alternative-id":["10.1002\/ajmg.a.63647"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63647","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2024,6,15]]},"assertion":[{"value":"2023-11-09","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-18","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-06-15","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63647"}}