{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:51Z","timestamp":1786976811651,"version":"build-2736575974"},"reference-count":43,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T00:00:00Z","timestamp":1409184000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Funda\u00ef\u00bf\u00bd\u00ef\u00bf\u00bdo para a Ci\u00ef\u00bf\u00bdncia e Tecnologia","award":["SFRH \/ BD \/ 46778 \/ 2008"],"award-info":[{"award-number":["SFRH \/ BD \/ 46778 \/ 2008"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2014,9]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>Nicolaides\u2013Baraitser syndrome (NCBRS) is an intellectual disability (ID)\/multiple congenital anomalies syndrome caused by non\u2010truncating mutations in the ATPase region of SMARCA2, which codes for one of the two alternative catalytic subunits of the BAF chromatin remodeling complex. We analyzed 61 molecularly confirmed cases, including all previously reported patients (n\u2009=\u200947) and 14 additional unpublished individuals. NCBRS is clinically and genetically homogeneous. The cardinal features (ID, short stature, microcephaly, typical face, sparse hair, brachydactyly, prominent interphalangeal joints, behavioral problems and seizures), are almost universally present. There is variability however, as ID can range from severe to mild, and sparse hair may be present only in certain age groups. There may be a correlation between the severity of the ID and presence of seizures, absent speech, short stature and microcephaly. SMARCA2 mutations causing NCBRS are likely to act through a dominant\u2010negative effect. There may be some genotype\u2013phenotype correlations (mutations at domain VI with severe ID and seizures; mutations affecting residues Pro883, Leu946, and Ala1201 with mild phenotypes) but numbers are still too small to draw definitive conclusions. \u00a9 2014 Wiley Periodicals, Inc.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.c.31409","type":"journal-article","created":{"date-parts":[[2014,8,28]],"date-time":"2014-08-28T12:42:10Z","timestamp":1409229730000},"page":"302-314","source":"Crossref","is-referenced-by-count":67,"title":["Phenotype and genotype in Nicolaides\u2013Baraitser syndrome"],"prefix":"10.1002","volume":"166","author":[{"given":"S\u00e9rgio B.","family":"Sousa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raoul C.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"the Nicolaides\u2013Baraitser Syndrome International Consortium","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,8,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(00)00127-1"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2008.05.016"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/22.10.1815"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/302606"},{"key":"e_1_2_9_6_1","first-page":"433","article-title":"Mental retardation with absent fifth fingernail and terminal phalanx","volume":"119","author":"Coffin GS","year":"1970","journal-title":"Am J Dis Child"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.8.2839-2851.2000"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkl540"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.14.4.2225"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.sbi.2010.03.011"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkl295"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M808782200"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e32833edaa9"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(88)81226-2"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2958.1999.01659.x"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22048"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1105"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2922"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(03)00034-0"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/366170a0"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp166"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35933"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199604000-00013"},{"key":"e_1_2_9_24_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.7.4.583"},{"key":"e_1_2_9_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13127"},{"key":"e_1_2_9_26_1","doi-asserted-by":"publisher","DOI":"10.1530\/REP-08-0335"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200310000-00005"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1993.tb06112.x"},{"key":"e_1_2_9_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199307000-00007"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2928"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/17.23.6979"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/24.19.3685"},{"key":"e_1_2_9_33_1","doi-asserted-by":"publisher","DOI":"10.4161\/epi.22299"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22394"},{"key":"e_1_2_9_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.01.013"},{"key":"e_1_2_9_36_1","volume-title":"GeneReviews\u2122 [Internet] Seattle","author":"Schrier Vergano S","year":"2013"},{"key":"e_1_2_9_37_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32956"},{"key":"e_1_2_9_38_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1203510"},{"key":"e_1_2_9_39_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2219"},{"key":"e_1_2_9_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1996.tb00921.x"},{"key":"e_1_2_9_41_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt366"},{"key":"e_1_2_9_42_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2931"},{"key":"e_1_2_9_43_1","first-page":"245","article-title":"Mental retardation, sparse hair, facial dysmorphism with a prominent lower lip, and lipodystrophy. 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