{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T12:50:38Z","timestamp":1765371038969,"version":"3.46.0"},"reference-count":24,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T00:00:00Z","timestamp":1755043200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["UL1TR001881"],"award-info":[{"award-number":["UL1TR001881"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Limited studies have been conducted on pubertal development in populations with pre\u2010existing medical conditions. More than 20\u2010fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group. There have been limited past studies examining the timing, duration, or characteristics of pubertal or menstrual cycle development in patients with ASXL\u2010related disorders. This study aimed to gather empirical cross\u2010sectional parent survey data regarding pubertal development in adolescents diagnosed with Bohring\u2010Opitz syndrome (BOS) (\n                    <jats:italic>ASXL1<\/jats:italic>\n                    ), Shashi\u2010Pena syndrome (SPS) (\n                    <jats:italic>ASXL2<\/jats:italic>\n                    ), or Bainbridge\u2010Ropers syndrome (BRS) (\n                    <jats:italic>ASXL3<\/jats:italic>\n                    ). Our findings showed evidence for parental and perceived provider concern for premature pubarche and possible precocious puberty (PP) in BOS (\n                    <jats:italic>ASXL1<\/jats:italic>\n                    ) males and females. Findings between the BOS (\n                    <jats:italic>ASXL1<\/jats:italic>\n                    ) and BRS (\n                    <jats:italic>ASXL3<\/jats:italic>\n                    ) individuals differed, representing distinct pubertal phenotypes within these populations. Notable trends toward premature development may warrant a low threshold for pediatric endocrinological evaluation in this population. The characterization and description of a pubertal profile for the ASXL\u2010related syndromes can help inform providers and parents when navigating this stage of development. Our study findings also highlight the need for prospective natural history studies to further define the contribution of pubertal development to the ASXL disorders phenotypes.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.64216","type":"journal-article","created":{"date-parts":[[2025,8,14]],"date-time":"2025-08-14T06:45:54Z","timestamp":1755153954000},"page":"35-58","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Assessing Pubertal Timing, Duration, and Related Characteristics in\n                    <scp>ASXL<\/scp>\n                    \u2010Related Disorders: A Cross\u2010Sectional Caregiver Survey Analysis"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-9462-4534","authenticated-orcid":false,"given":"Amanda","family":"Piring","sequence":"first","affiliation":[{"name":"Clinical and Translational Science Institute, University of California  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca","family":"Hicks","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Endocrinology University of California  Los Angeles California USA"},{"name":"Miller Children's and Women's Hospital  Long Beach California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julia","family":"Sloan","sequence":"additional","affiliation":[{"name":"Department of Urology, Division of Clinical Genetics University of California  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Estefania","family":"Ramires\u2010Sanchez","sequence":"additional","affiliation":[{"name":"Department of Medicine Statistics Core University of California  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bianca E.","family":"Russell","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Division of Clinical Genetics University of California  Los Angeles California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,8,13]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213\u20108587(15)00418\u20100"},{"volume-title":"UpToDate","year":"2024","author":"Biro F. M.","key":"e_1_2_9_3_1"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/deaa306"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eclinm.2019.11.017"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62156"},{"key":"e_1_2_9_7_1","doi-asserted-by":"crossref","unstructured":"Das J. M. andR.Geetha.2023.\u201cCorpus Callosum Agenesis.\u201dhttps:\/\/www.ncbi.nlm.nih.gov\/books\/NBK540986\/.","DOI":"10.53347\/rID-152665"},{"volume-title":"StatPearls","year":"2022","author":"Emmanuel M.","key":"e_1_2_9_8_1"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.23736\/S0026\u20104946.20.05970\u20108"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.5114\/aoms.2020.96394"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/cen.14578"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2024.1380934"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2011\u20100225"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ncl.2009.08.005"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1159\/000191264"},{"volume-title":"GeneReviews","year":"2018","author":"Russell B.","key":"e_1_2_9_16_1"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1210\/clinem\/dgaa955"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.3345\/cep.2021.00521"},{"key":"e_1_2_9_19_1","unstructured":"Simons Searchlight.2024.\u201cSimons Searchlight Registry Update ASXL3.\u201dhttps:\/\/cdn.simonssearchlight.org\/wp\u2010content\/uploads\/2024\/08\/06065921\/24Q2\u2010ASXL3.pdf."},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.110.5.911"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2013\u20103285"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.yhbeh.2012.03.018Winter"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2019.00035"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2352\u20104642(23)00237\u20107"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.eclinm.2020.100260"}],"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.64216","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,10]],"date-time":"2025-12-10T09:07:23Z","timestamp":1765357643000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.64216"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,13]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1002\/ajmg.a.64216"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.64216","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2025,8,13]]},"assertion":[{"value":"2024-11-14","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-07-28","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-08-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}