{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T01:02:59Z","timestamp":1780966979623,"version":"3.54.1"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7550,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present a sibship of three brothers affected with the GAPO syndrome. This is a rare and very characteristic autosomal\u2010recessive trait whose main manifestations are growth retardation, alopecia, pseudo anodontia, and optic atrophy. So far nine affected individuals are known (4 males and 5 females). Two of them, the patient of Andersen and Pindborg cited in Tipton and Gorlin [1983] and one of the cases of Wajntal et al [1982], died at 39 and 37 years respectively.<\/jats:p>","DOI":"10.1002\/ajmg.1320190203","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:53:03Z","timestamp":1118519583000},"page":"217-223","source":"Crossref","is-referenced-by-count":24,"title":["GAPO syndrome: Report of three affected brothers"],"prefix":"10.1002","volume":"19","author":[{"given":"Antonio Ricardo T.","family":"Gagliardi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudette Hajaj","family":"Gonzalez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Pratesi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"484","article-title":"Et tilfaelde at total \u201cpseudo\u2010anodonti\u201d inforbindelse med Kraniedeformitet, dvaergvaekst og ektodermal displasi","volume":"55","author":"Andersen TH","year":"1947","journal-title":"Odont T"},{"key":"e_1_2_1_3_1","first-page":"740","article-title":"Poiquiloderma cong\u011bnito familiar (S. de Rothmund\u2010Thomson)","volume":"29","author":"Epps DR","year":"1977","journal-title":"Ci\u011bncia Cultura"},{"key":"e_1_2_1_4_1","first-page":"284","article-title":"Inbreeding in Brazil","volume":"9","author":"Freire\u2010Maia N","year":"1957","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","volume-title":"Ectodermal Dysplasias \u2014 A Clinical and Genetic Study","author":"Freire\u2010Maia N","year":"1984"},{"key":"e_1_2_1_6_1","first-page":"155","article-title":"Pseudoanaodontia, 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_7_1","first-page":"49","volume-title":"Skeletal Dysplasias","author":"Gorlin RJ","year":"1982"},{"key":"e_1_2_1_8_1","unstructured":"GorlinRJ TiptonRE LangerLOJr(1978)Pseudoanodontia Growth Retadation and Alopecia: A Syndrome. Paper presented at Annual Meeting of American Academy of Oral Pathology Fort Lauderdale Florida 26 April 1978."},{"key":"e_1_2_1_9_1","first-page":"635","article-title":"Inbreeding effects on mortality in northeastern Brazil","volume":"44","author":"Krieger H","year":"1972","journal-title":"An Acad Brasil Ci\u011bnc"},{"issue":"1","key":"e_1_2_1_10_1","first-page":"14","article-title":"Growth retardation, alopecia, Pseudoanodontia and optic atrophy","author":"Shapira Y","year":"1982","journal-title":"Syndrome Identification"},{"key":"e_1_2_1_11_1","unstructured":"SilvaEO(1982) Personal communication to Dr. N. Freire\u2010Maia."},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190202"},{"key":"e_1_2_1_13_1","first-page":"705","article-title":"Nova sindrome de displasia ectodermica: Nanismo, alopecia, anodontia e cutis laxa","volume":"34","author":"Wajntal A","year":"1982","journal-title":"Ci\u011bncia Cultura"},{"key":"e_1_2_1_14_1","unstructured":"WajntalA(1983) Personal communication."}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320190203","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320190203","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T00:59:59Z","timestamp":1697763599000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320190203"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,10]]},"references-count":13,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1984,10]]}},"alternative-id":["10.1002\/ajmg.1320190203"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320190203","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,10]]}}}