{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:17:28Z","timestamp":1792153048724,"version":"4.4.0"},"reference-count":14,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2009,7]]},"DOI":"10.1097\/mcd.0b013e32832a9ea5","type":"journal-article","created":{"date-parts":[[2009,6,1]],"date-time":"2009-06-01T03:42:02Z","timestamp":1243827722000},"page":"168-171","source":"Crossref","is-referenced-by-count":9,"title":["X-linked \u03b1 thalassaemia\/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene"],"prefix":"10.1097","volume":"18","author":[{"given":"Aleksandra","family":"Jezela-Stanek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris","family":"Fisher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Szarras-Czapnik","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Olczak-Kowalczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard J.","family":"Gibbons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jolanta","family":"S\u0142owikowska-Hilczer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ma\u0142gorzata","family":"Krajewska-Walasek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-14-20211004","doi-asserted-by":"crossref","first-page":"11939","DOI":"10.1073\/pnas.0704057104","article-title":"Structural consequences of disease-causing mutations in the ATRX-DNMT3-DNMT3L (ADD) domain of the chromatin-associated protein ATRX","volume":"104","author":"Argentaro","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"key":"R2-14-20211004","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1111\/j.1399-0004.2006.00641.x","article-title":"Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome","volume":"70","author":"Badens","year":"2006","journal-title":"Clin Genet"},{"key":"R3-14-20211004","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1038\/sj.ejhg.5201943","article-title":"Patient mutations alter ATRX targeting to PML nuclear bodies","volume":"16","author":"B\u00e9rub\u00e9","year":"2008","journal-title":"Eur J Hum Genet"},{"key":"R4-14-20211004","doi-asserted-by":"crossref","first-page":"499","DOI":"10.1016\/j.ejmg.2006.01.006","article-title":"SLOS carrier frequency in Poland as determined by screening for Trp151X and Val326Leu DHCR7 mutations","volume":"49","author":"Ciara","year":"2006","journal-title":"Eur J Med Genet"},{"key":"R5-14-20211004","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1186\/1750-1172-1-15","article-title":"Alpha thalassaemia-mental retardation, X linked","volume":"1","author":"Gibbons","year":"2006","journal-title":"Orphanet J Rare Dis"},{"key":"R6-14-20211004","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1002\/1096-8628(200023)97:3<204::AID-AJMG1038>3.0.CO;2-X","article-title":"Molecular-clinical spectrum of the ATR-X syndrome","volume":"97","author":"Gibbons","year":"2000","journal-title":"Am J Med Genet"},{"key":"R7-14-20211004","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1002\/ajmg.1320550309","article-title":"The clinical and hematological features of the X-linked a thalassemia\/mental retardation syndrome (ATR-X)","volume":"55","author":"Gibbons","year":"1995","journal-title":"Am J Med Genet"},{"key":"R8-14-20211004","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1002\/humu.20734","article-title":"Mutations in the chromatin-associated protein ATRX","volume":"29","author":"Gibbons","year":"2008","journal-title":"Hum Mutat"},{"key":"R9-14-20211004","doi-asserted-by":"crossref","first-page":"1172","DOI":"10.1002\/ajmg.a.31248","article-title":"The gastrointestinal phenotype of ATR-X syndrome","volume":"140","author":"Martucciello","year":"2006","journal-title":"Am J Med Genet"},{"key":"R10-14-20211004","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1002\/ajmg.1320550311","article-title":"X-linked alpha thalassemia\/mental retardation (ATR-X) syndrome. A new kindred with severe genital anomalies and mild hematologic expression","volume":"55","author":"McPherson","year":"1995","journal-title":"Am J Med Genet"},{"key":"R11-14-20211004","doi-asserted-by":"crossref","first-page":"1899","DOI":"10.1093\/hmg\/5.12.1899","article-title":"ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome","volume":"5","author":"Picketts","year":"1996","journal-title":"Hum Mol Genet"},{"key":"R12-14-20211004","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1016\/j.tem.2004.07.006","article-title":"ATRX and sex differentiation","volume":"15","author":"Tang","year":"2004","journal-title":"Trends Endocrinol Metab"},{"key":"R13-14-20211004","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1159\/000472225","article-title":"A point mutation in the XNP gene, associated with an ATR-X phenotype without alphathalassemia","volume":"4","author":"Villard","year":"1996a","journal-title":"Eur J Hum Genet"},{"key":"R14-14-20211004","first-page":"499","article-title":"Splicing mutation in the ATR-X gene can lead to a dysmorphic mental retardation phenotype without alphathalassemia","volume":"58","author":"Villard","year":"1996b","journal-title":"Am J Hum Genet"}],"container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00019605-200907000-00014","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T17:56:10Z","timestamp":1786038970000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00019605-200907000-00014"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,7]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2009]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0b013e32832a9ea5","relation":{},"ISSN":["0962-8827"],"issn-type":[{"value":"0962-8827","type":"print"}],"subject":[],"published":{"date-parts":[[2009,7]]}}}