{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T07:16:53Z","timestamp":1696576613894},"reference-count":18,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2016,4,19]],"date-time":"2016-04-19T00:00:00Z","timestamp":1461024000000},"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":[[2016,7]]},"abstract":"<jats:sec><jats:label \/><jats:p>Specific mutations in MECP2 cause Rett syndrome (RTT) in females whereas other mutations in the same gene cause several other syndromes in males, including X\u2010linked intellectual disability (with and without spasticity) (OMIM 300055) and X\u2010linked intellectual disability due to increased dosage of MECP2 (OMIM 300260). Males can also manifest an entity known as MECP2\u2010related severe neonatal encephalopathy whose mutations are identical to those in females with RTT. We describe here the first case of MECP2\u2010related severe neonatal encephalopathy caused by a mutation in exon one of MECP2, a mutation rarely identified in females with RTT. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37665","type":"journal-article","created":{"date-parts":[[2016,4,19]],"date-time":"2016-04-19T11:59:12Z","timestamp":1461067152000},"page":"1881-1883","source":"Crossref","is-referenced-by-count":4,"title":["A rare MeCP2_e1 mutation first described in a male patient with severe neonatal encephalopathy"],"prefix":"10.1002","volume":"170","author":[{"given":"Omri David","family":"Soffer","sequence":"first","affiliation":[{"name":"Department of Pediatrics Staten Island University Hospital Staten Island, New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Sidlow","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Staten Island University Hospital Staten Island, New York New York"},{"name":"Department of Pediatrics and Internal Medicine State University of New York Health Science Center at Brooklyn Brooklyn New York"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,4,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.026161"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2005.03.018"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10194"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2006.06.001"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncpneuro0148"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2002-23598"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11920-010-0097-7"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000223318.28938.45"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000144350.97844.94"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/fn.88.3.F250"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2004.10.002"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1327"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.11.002"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32776"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.55.8.1188"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.049452"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/302690"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700105"}],"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.37665","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37665","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T23:18:43Z","timestamp":1696547923000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37665"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,4,19]]},"references-count":18,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2016,7]]}},"alternative-id":["10.1002\/ajmg.a.37665"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37665","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,4,19]]}}}