{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T11:56:42Z","timestamp":1774958202338,"version":"3.50.1"},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2013,11,25]],"date-time":"2013-11-25T00:00:00Z","timestamp":1385337600000},"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":[[2014,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>We report on two Portuguese sisters with a very similar phenotype characterized by severe intellectual disability, absent speech, relative macrocephaly, coarse face, cerebellar hypotrophy, and severe ataxia. Additional common features include increased thickness of the cranial vault, delayed dental eruption, talipes equino\u2010varus, clinodactyly, and camptodactyly of the fifth finger. The older sister has retinal dystrophy and the younger sister has short stature. Their parents are consanguineous. We suggest this condition constitutes a previously unreported autosomal recessive entity. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36235","type":"journal-article","created":{"date-parts":[[2013,11,25]],"date-time":"2013-11-25T20:36:23Z","timestamp":1385411783000},"page":"10-14","source":"Crossref","is-referenced-by-count":14,"title":["Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters"],"prefix":"10.1002","volume":"164","author":[{"given":"S\u00e9rgio B.","family":"Sousa","sequence":"first","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Hospital Pedi\u00e1trico Centro Hospitalar e Universit\u00e1rio de Coimbra Coimbra Portugal"},{"name":"Clinical and Molecular Genetics Unit UCL Institute of Child Health London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabiana","family":"Ramos","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Hospital Pedi\u00e1trico Centro Hospitalar e Universit\u00e1rio de Coimbra Coimbra Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paula","family":"Garcia","sequence":"additional","affiliation":[{"name":"Unidade de Doen\u00e7as Metabolicas Centro de Desenvolvimento da Crian\u00e7a, Hospital Pedi\u00e1trico, Centro Hospitalar e Universit\u00e1rio de Coimbra Coimbra Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui P.","family":"Pais","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Neuroradiologia, Hospital Pedi\u00e1trico Centro Hospitalar e Universit\u00e1rio de Coimbra Coimbra Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catarina","family":"Paiva","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Oftalmologia, Hospital Pedi\u00e1trico Centro Hospitalar e Universit\u00e1rio de Coimbra Coimbra Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Philip L.","family":"Beales","sequence":"additional","affiliation":[{"name":"Molecular Medicine Unit UCL Institute of Child Health London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gudrun E.","family":"Moore","sequence":"additional","affiliation":[{"name":"Clinical and Molecular Genetics Unit UCL Institute of Child Health London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge M.","family":"Saraiva","sequence":"additional","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Hospital Pedi\u00e1trico Centro Hospitalar e Universit\u00e1rio de Coimbra Coimbra Portugal"},{"name":"University Clinic of Pediatrics Faculty of Medicine, University of Coimbra Coimbra Portugal"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raoul C. M.","family":"Hennekam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Clinical Genetics Academic Medical Center, University of Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,11,25]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-18"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30882"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738050200110101"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(13)70024-3"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12230"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2009.01.003"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-6-50"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2007.07.010"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1089\/109065703322146795"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2012.04.006"}],"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.36235","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36235","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T01:33:18Z","timestamp":1696555998000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36235"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,11,25]]},"references-count":10,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2014,1]]}},"alternative-id":["10.1002\/ajmg.a.36235"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36235","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,11,25]]}}}