{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T19:21:41Z","timestamp":1792264901603,"version":"4.4.0"},"reference-count":13,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,9,12]],"date-time":"2005-09-12T00:00:00Z","timestamp":1126483200000},"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":[[2005,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Recent reports have demonstrated that mutations in the <jats:italic>OPHN1<\/jats:italic> gene were responsible for a syndromic rather than non\u2010specific mental retardation. Abnormalities of the posterior fossa with cerebellar hypoplasia have been demonstrated in all male patients reported to date. We report here a new family with X\u2010linked mental retardation due to mutation in <jats:italic>OPHN1<\/jats:italic> and present unpublished data about two families previously reported, concerning the facial and psychological phenotype of affected males and carrier females. Our study confirms that cerebellar hypoplasia is a hallmark of this syndrome. In addition, affected males display facial similarities that can help the diagnosis. Most carrier females have mild mental retardation and subtle facial changes. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30882","type":"journal-article","created":{"date-parts":[[2005,9,12]],"date-time":"2005-09-12T23:47:02Z","timestamp":1126568822000},"page":"314-317","source":"Crossref","is-referenced-by-count":36,"title":["Delineation of the clinical phenotype associated with <i>OPHN1<\/i> mutations based on the clinical and neuropsychological evaluation of three families"],"prefix":"10.1002","volume":"138A","author":[{"given":"B.","family":"Chabrol","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Girard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"N'Guyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"G\u00e9rard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Carlier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Villard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicole","family":"Philip","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,9,12]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awg173"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/31940"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0028-3932(96)00119-4"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20422"},{"key":"e_1_2_5_6_1","volume-title":"K\u2010ABC: Batterie pour l'examen psychologique de l'enfant","author":"Kaufman AS","year":"1993"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.6.441"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1176\/jnp.16.3.367"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/121.4.561"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-003-0891-z"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200320"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201279"},{"key":"e_1_2_5_13_1","volume-title":"Echelle d'Intelligence de Wechsler pour Enfants, troisi\u00e8me \u00e9dition. 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