{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T08:10:13Z","timestamp":1698739813181},"reference-count":6,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T00:00:00Z","timestamp":1366675200000},"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":[[2013,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label \/><jats:p>In 1983, Fitzsimmons et al. reported four brothers with an unrecognized disorder characterized by intellectual disability, spastic paraplegia, and palmo\u2010plantar hyperkeratosis (OMIM 309500). In this report, we describe a family in which two males, maternal half\u2010brothers, had learning disabilities. Both patients also showed spasticity in the lower limbs and palmo\u2010plantar hyperkeratosis. The mother of the affected boys had learning difficulties but did not show any dermatological symptoms. This report confirms that the association of features reported by Fitzsimmons et al. is a distinct entity and further suggests an X\u2010linked mode of inheritance. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35871","type":"journal-article","created":{"date-parts":[[2013,4,23]],"date-time":"2013-04-23T20:20:18Z","timestamp":1366748418000},"page":"1390-1393","source":"Crossref","is-referenced-by-count":1,"title":["Palmo\u2010Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: Further evidence for an X\u2010linked inheritance"],"prefix":"10.1002","volume":"161","author":[{"given":"Bertrand","family":"Isidor","sequence":"first","affiliation":[{"name":"CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tiphaine","family":"Lefebvre","sequence":"additional","affiliation":[{"name":"CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S\u00e9bastien","family":"Barbarot","sequence":"additional","affiliation":[{"name":"CHU Nantes, Service de Dermatologie Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Julie","family":"Perrier","sequence":"additional","affiliation":[{"name":"CHU Nantes, Service de P\u00e9diatrie Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sandra","family":"Mercier","sequence":"additional","affiliation":[{"name":"CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yann","family":"P\u00e9r\u00e9on","sequence":"additional","affiliation":[{"name":"CHU Nantes, Centre de R\u00e9f\u00e9rence Maladies Neuromusculaires Nantes\u2014Angers Nantes France"},{"name":"INSERM UMR 1087 institut du thorax Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C\u00e9dric","family":"Le Caignec","sequence":"additional","affiliation":[{"name":"CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes France"},{"name":"INSERM UMR 1087 institut du thorax Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[{"name":"CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,4,23]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.10.011"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb01887.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/302681"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(08)70258-8"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278973"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi186"}],"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.35871","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35871","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T14:42:04Z","timestamp":1698676924000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35871"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4,23]]},"references-count":6,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,6]]}},"alternative-id":["10.1002\/ajmg.a.35871"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35871","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,4,23]]}}}