{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T12:29:10Z","timestamp":1766492950341,"version":"3.41.0"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,7]]},"DOI":"10.1097\/mcd.0000000000000522","type":"journal-article","created":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T19:00:06Z","timestamp":1741806006000},"page":"68-70","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["A de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge\u2013Janssens syndrome type 2"],"prefix":"10.1097","volume":"34","author":[{"given":"Ana M.","family":"Zarante-Bahamon","sequence":"first","affiliation":[{"name":"Medical Genetics Department, Instituto Roosevelt"},{"name":"Genetics Department, Hospital Universitario San Ignacio"},{"name":"Outpatient Clinic, Human Genetics, Biotecnolog\u00eda y gen\u00e9tica S.A.S."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda C.","family":"Cort\u00e9s-Rojas","sequence":"additional","affiliation":[{"name":"Child Neurology Resident, Hospital Militar Central"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge L.","family":"Ramon-G\u00f3mez","sequence":"additional","affiliation":[{"name":"Child Neurology Department, Instituto Roosevelt, Bogot\u00e1, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2025,2,25]]},"reference":[{"key":"R1-20250530","doi-asserted-by":"crossref","first-page":"3262","DOI":"10.1002\/ajmg.a.62946","article-title":"PPP2R1A neurodevelopmental disorder is associated with congenital heart defects.","volume":"188","author":"Baker","year":"2022","journal-title":"Am J Med Genet A"},{"key":"R2-20250530","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1038\/s41431-022-01087-w","article-title":"Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability.","volume":"30","author":"Brea-Fern\u00e1ndez","year":"2022","journal-title":"Eur J Hum Genet"},{"key":"R3-20250530","doi-asserted-by":"crossref","first-page":"126","DOI":"10.3390\/genes14010126","article-title":"Prenatal diagnosis of PPP2R1A-related neurodevelopmental disorders using whole exome sequencing: clinical report and review of literature.","volume":"14","author":"Lei","year":"2023","journal-title":"Genes (Basel)"},{"key":"R4-20250530","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1038\/s41436-020-00981-2","article-title":"The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.","volume":"23","author":"Lenaerts","year":"2021","journal-title":"Genet Med"},{"key":"R5-20250530","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1136\/jmg-2022-108713","article-title":"Clinical, neuroimaging and molecular characteristics of PPP2R5D-related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.","volume":"60","author":"Oyama","year":"2023","journal-title":"J Med Genet"},{"key":"R6-20250530","doi-asserted-by":"crossref","first-page":"1750","DOI":"10.3390\/genes14091750","article-title":"Novel variants of PPP2R1A in catalytic subunit binding domain and genotype-phenotype analysis in neurodevelopmentally delayed patients.","volume":"14","author":"Qian","year":"2023","journal-title":"Genes"},{"key":"R7-20250530","doi-asserted-by":"crossref","first-page":"jcs248187","DOI":"10.1242\/jcs.248187","article-title":"Protein phosphatase 2A \u2013 structure, function and role in neurodevelopmental disorders.","volume":"134","author":"Sandal","year":"2021","journal-title":"J Cell Sci"},{"key":"R8-20250530","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1016\/j.neubiorev.2014.02.015","article-title":"Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.","volume":"46","author":"Srivastava","year":"2014","journal-title":"Neurosci Biobehav Rev"},{"key":"R9-20250530","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1042\/BST20201313","article-title":"Protein phosphatase 2A (PP2A) mutations in brain function, development, and neurologic disease.","volume":"49","author":"Verbinnen","year":"2021","journal-title":"Biochem Soc Trans"},{"key":"R10-20250530","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1007\/s12264-019-00430-4","article-title":"A De Novo variant identified in the PPP2R1A gene in an infant induces neurodevelopmental abnormalities.","volume":"36","author":"Zhang","year":"2019","journal-title":"Neurosci Bull"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000522","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,30]],"date-time":"2025-05-30T14:00:20Z","timestamp":1748613620000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/MCD.0000000000000522"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2,25]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0000000000000522","relation":{},"ISSN":["0962-8827","1473-5717"],"issn-type":[{"type":"print","value":"0962-8827"},{"type":"electronic","value":"1473-5717"}],"subject":[],"published":{"date-parts":[[2025,2,25]]}}}