{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,27]],"date-time":"2026-10-27T07:12:35Z","timestamp":1793085155518,"version":"4.5.0"},"reference-count":9,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,5,16]],"date-time":"2005-05-16T00:00:00Z","timestamp":1116201600000},"content-version":"vor","delay-in-days":3535,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,9,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We studied a 3.5\u2010year\u2010old Japanese boy with growth retardation, alopecia, pseudoanodontia, and bilateral papilledema. He was born of nonconsanguineous parents, but his paternal grandparents were related. From his characteristic physical manifestations, we diagnosed him as the first known case of GAPO syndrome in Japan and perhaps in the Mongoloid race. Our case had prominent dilatation of scalp veins and an audible intracranial bruit. Cranial angiography documented a narrowing of the sigmoid sinuses, with no flow to either jugular vein. We discuss here the relationships between optic atrophy and intracranial vascular changes in this syndrome. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320580312","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:08:26Z","timestamp":1118513306000},"page":"257-261","source":"Crossref","is-referenced-by-count":20,"title":["GAPO syndrome: Report on the first case in Japan"],"prefix":"10.1002","volume":"58","author":[{"given":"Naoki","family":"Moriya","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuo","family":"Mitsui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takanori","family":"Shibata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsuhiro","family":"Yamaguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chikako","family":"Kanazawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Matsunaga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyoshi","family":"Hayasaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,5,16]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"484","article-title":"El tifaelde at total \u201cpseudoanodonti\u201d inforbindelse med kranie deformitet, dvaergvaekst og ektodermal displasi","volume":"55","author":"Anderson TH","year":"1947","journal-title":"Odontol Tilster"},{"key":"e_1_2_1_3_1","first-page":"98","volume-title":"Ectodermal Dysplasias\u2014A Clinical and Genetic Study","author":"Freire\u2010Maia N","year":"1984"},{"key":"e_1_2_1_4_1","first-page":"155","article-title":"Pseudoanodontia, cranial deformity, blindness, alopecia and dwarfism: a new syndrome","volume":"45","author":"Fuks A","year":"1978","journal-title":"J Dent Child"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190203"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260323"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470309"},{"key":"e_1_2_1_8_1","first-page":"743","article-title":"Dwarfism, alopecia, pseudoanodontia and other anomalies: report of a case","volume":"7","author":"Silva EO","year":"1984","journal-title":"Rev Bras Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190202"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370210"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320580312","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320580312","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T20:08:55Z","timestamp":1698350935000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320580312"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,9,11]]},"references-count":9,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1995,9,11]]}},"alternative-id":["10.1002\/ajmg.1320580312"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320580312","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,9,11]]}}}