{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T13:45:44Z","timestamp":1791294344507,"version":"4.1.0"},"reference-count":31,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2007,2,7]],"date-time":"2007-02-07T00:00:00Z","timestamp":1170806400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,3,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recently, Butler et al. [2005; J Med Genet 42:318\u2013321] reported the presence of heterozygous germline mutations in the <jats:italic>PTEN<\/jats:italic> tumor suppressor gene in three children with autism and macrocephaly. Here, we report the presence of <jats:italic>PTEN<\/jats:italic> mutations in two additional unrelated children with macrocephaly and autism. Our findings extend those of Butler et al. and suggest that <jats:italic>PTEN<\/jats:italic> gene sequencing should be included in the genetic evaluation of this subset of autistic individuals. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31619","type":"journal-article","created":{"date-parts":[[2007,2,7]],"date-time":"2007-02-07T20:57:11Z","timestamp":1170881831000},"page":"589-593","source":"Crossref","is-referenced-by-count":144,"title":["Increasing knowledge of <i>PTEN<\/i> germline mutations: Two additional patients with autism and macrocephaly"],"prefix":"10.1002","volume":"143A","author":[{"given":"Gail E.","family":"Herman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Butter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedicta","family":"Enrile","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Pastore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas W.","family":"Prior","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annemarie","family":"Sommer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,2,22]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000195304.45116.96"},{"key":"e_1_2_4_3_1","unstructured":"AGRE.2006.Autism Genetics Resource Exchange: Index of Protocols.http:\/\/www.agre.org\/program\/indeval.cfm?do=program."},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30077"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30076"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024646"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/430278"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022995611730"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-004-1038-2"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrc1819"},{"key":"e_1_2_4_11_1","first-page":"A564","article-title":"Macrocephaly, macrosomia and autistic behavior due to a de novo PTEN germline mutation","volume":"69","author":"Dasouki MJ","year":"2001","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10257"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.med.52.1.371"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/321292"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1477"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/323264"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2006.03.023"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30080"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02211841"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0962-8924(99)01519-6"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-6-1"},{"key":"e_1_2_4_22_1","first-page":"481","article-title":"Mental health in the United States: Parental report of diagnosed autism in children aged 4\u201317 years\u2014United States, 2003\u20132004","volume":"55","author":"MMWR","year":"2006","journal-title":"MMWR Morb Mortal Wkly Rep"},{"key":"e_1_2_4_23_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.113.5.e472"},{"key":"e_1_2_4_24_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.8.1383"},{"key":"e_1_2_4_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.018036"},{"key":"e_1_2_4_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2004.07.003"},{"key":"e_1_2_4_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.06.008"},{"key":"e_1_2_4_28_1","doi-asserted-by":"publisher","DOI":"10.1086\/340026"},{"key":"e_1_2_4_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrdd.20041"},{"key":"e_1_2_4_30_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20722"},{"key":"e_1_2_4_31_1","unstructured":"ZbukKM SteinJL EngC.2006.PTEN hamartoma tumor syndrome (PHTS). In: Gene Reviews: Genetic Disease Online Reviews at GeneTests\u2010GeneClinics [database online] Copyright. University of Washington Seattle. Available athttp:\/\/www.geneclinics.org."},{"key":"e_1_2_4_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981204)80:4<399::AID-AJMG18>3.0.CO;2-O"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31619","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31619","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T17:18:06Z","timestamp":1697131086000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31619"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,2,22]]},"references-count":31,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2007,3,15]]}},"alternative-id":["10.1002\/ajmg.a.31619"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31619","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,2,22]]}}}