{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,21]],"date-time":"2026-07-21T08:19:52Z","timestamp":1784621992366,"version":"3.55.0"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2012,5,11]],"date-time":"2012-05-11T00:00:00Z","timestamp":1336694400000},"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":[[2012,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the <jats:italic>RNU4ATAC<\/jats:italic> gene cause microcephalic osteodysplastic primordial dwarfism type I. It encodes <jats:italic>U4atac<\/jats:italic>, a small nuclear RNA that is a component of the minor spliceosome. Six distinct mutations in 30 patients diagnosed as microcephalic osteodysplastic primordial dwarfism type I have been described. We report on three additional patients from two unrelated families presenting with a milder phenotype of microcephalic osteodysplastic primordial dwarfism type I and metopic synostosis. Patient 1 had two novel heterozygous mutations in the 3\u2032 prime stem\u2010loop, g.66G\u2009&gt;\u2009C and g.124G\u2009&gt;\u2009A while Patients 2 and 3 had a homozygous mutation g.55G\u2009&gt;\u2009A in the 5\u2032 prime stem\u2010loop. Although they manifested the known spectrum of clinical features of microcephalic osteodysplastic primordial dwarfism type I, they lacked evidence of severe developmental delay and neurological symptoms. These findings expand the mutational and phenotypic spectrum of this syndrome. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35356","type":"journal-article","created":{"date-parts":[[2012,5,11]],"date-time":"2012-05-11T15:23:33Z","timestamp":1336749813000},"page":"1455-1461","source":"Crossref","is-referenced-by-count":27,"title":["Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I"],"prefix":"10.1002","volume":"158A","author":[{"given":"Ghada M.H.","family":"Abdel\u2010Salam","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed S.","family":"Abdel\u2010Hamid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud","family":"Issa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"Magdy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmed","family":"El\u2010Kotoury","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalda","family":"Amr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,5,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34299"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10021"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471\u20102164\u20108\u2010458"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1202205"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1200587"},{"key":"e_1_2_5_7_1","first-page":"437","article-title":"Surgical treatment of trigonocephalies and associated hypotelorbitism","volume":"13","author":"Hinojosa J","year":"2002","journal-title":"Neurochirurgia"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-010-0748-0"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.spen.2007.08.008"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-37086"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0929-693X(98)80130-9"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390228"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2011.01756.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1205503"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470000264"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210318"}],"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.35356","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35356","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T14:25:35Z","timestamp":1697034335000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35356"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5,11]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2012,6]]}},"alternative-id":["10.1002\/ajmg.a.35356"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35356","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,5,11]]}}}