{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:49:40Z","timestamp":1764172180979},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,1,27]],"date-time":"2017-01-27T00:00:00Z","timestamp":1485475200000},"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":[[2017,3]]},"abstract":"<jats:sec><jats:label \/><jats:p>Potocki\u2013Shaffer syndrome is a contiguous gene deletion syndrome involving 11p11.2p12 and characterized by multiple exostoses, biparietal foramina, genitourinary anomalies in males, central nervous system abnormalities, intellectual disability, and craniofacial abnormalities. Current literature implicates haploinsufficiency of three genes (<jats:italic>ALX4<\/jats:italic>, <jats:italic>EXT2<\/jats:italic>, and <jats:italic>PHF21A<\/jats:italic>) in causing some of the cardinal features of PSS. We report a patient with multiple exostoses, biparietal foramina, and history of mild developmental delay. Cognitive and behavioral testing supported formal diagnoses of anxiety, verbal dyspraxia, articulation disorder, and coordination disorder, without intellectual disability. His facial features, though distinctive, were not typical of those observed in PSS. As the chromosomal deletion does not encompass <jats:italic>PHF21A<\/jats:italic>, this case lends further support that haploinsufficiency of <jats:italic>PHF21A<\/jats:italic> contributes to the intellectual disability and craniofacial abnormalities in PSS and that there are other genes in the region which likely contribute to the behavioral phenotype in this syndrome. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37988","type":"journal-article","created":{"date-parts":[[2017,1,27]],"date-time":"2017-01-27T06:04:58Z","timestamp":1485497098000},"page":"716-720","source":"Crossref","is-referenced-by-count":14,"title":["Potocki\u2013Shaffer syndrome in a child without intellectual disability\u2014The role of <i>PHF21A<\/i> in cognitive function"],"prefix":"10.1002","volume":"173","author":[{"given":"Caroline","family":"McCool","sequence":"first","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adiaha","family":"Spinks\u2010Franklin","sequence":"additional","affiliation":[{"name":"Department of Developmental Pediatrics Baylor College of Medicine Houston Texas"},{"name":"Texas Children's Hospital Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lenora M.","family":"Noroski","sequence":"additional","affiliation":[{"name":"Texas Children's Hospital Houston Texas"},{"name":"Department of Allergy, Immunology, and Rheumatology Baylor College of Medicine Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lorraine","family":"Potocki","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas"},{"name":"Texas Children's Hospital Houston Texas"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,1,27]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"734","article-title":"Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions on the short arm of chromosome 11","volume":"58","author":"Bartsch O","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.600506.x"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp391"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.005"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37344"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980217)75:5<538::AID-AJMG17>3.0.CO;2-L"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960329)62:3<319::AID-AJMG22>3.0.CO;2-M"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450512"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33245"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V97.1.81"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201366"},{"key":"e_1_2_4_13_1","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1016\/S0002-9297(07)62963-2","article-title":"Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11. 2 contiguous gene\u2010deletion syndrome","volume":"67","author":"Wu YQ","year":"2000","journal-title":"Am J Hum Genet"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201163"}],"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.37988","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37988","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,24]],"date-time":"2023-09-24T06:23:57Z","timestamp":1695536637000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37988"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,27]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,3]]}},"alternative-id":["10.1002\/ajmg.a.37988"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37988","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,27]]}}}