{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,2]],"date-time":"2025-11-02T15:44:22Z","timestamp":1762098262657},"reference-count":33,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2006,12,12]],"date-time":"2006-12-12T00:00:00Z","timestamp":1165881600000},"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":[[2007,1,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A male with 46,XY,t(3;17)(p14.3;q24.3) presented with gingival hyperplasia, hypertrichosis, unusually large ears and marked hypertrophy of the nose, characteristic of the Zimmermann\u2013Laband syndrome (ZLS). Other features include large facial bones and mandibles, large protruding upper lip, enlarged fingers and toes, strabismus, and enlarged phallus. Knowledge of a 46,XX,t(3;8)(p21.2;q24.3) reported previously in a mother and daughter with ZLS suggests that the 3p14.3\u2010p21.2 region may contain a gene responsible for ZLS. We have reassessed the chromosome 3 breakpoint region of the t(3;8) and revised its breakpoint location to 3p14.3, based upon an updated human genome sequence assembly. Using fluorescence in situ hybridization (FISH) with BAC clones, we have also identified a breakpoint spanning clone at 3p14.3 in our t(3;17) patient, thereby narrowing the breakpoint to a region of approximately 200 kb. These data suggest that the gene responsible for ZLS is located in 3p14.3 and implicates four likely candidate genes in this region: <jats:italic>CACNA2D3,<\/jats:italic> encoding a voltage\u2010dependent calcium channel, <jats:italic>LRTM1,<\/jats:italic> a gene of unknown function embedded within <jats:italic>CACNA2D3, WNT5A<\/jats:italic>, encoding a secreted signaling protein of the WNT family, and <jats:italic>ERC2<\/jats:italic>, which codes for a synapse protein. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31544","type":"journal-article","created":{"date-parts":[[2006,12,13]],"date-time":"2006-12-13T03:17:21Z","timestamp":1165979841000},"page":"107-111","source":"Crossref","is-referenced-by-count":17,"title":["Candidate loci for Zimmermann\u2013Laband syndrome at 3p14.3"],"prefix":"10.1002","volume":"143A","author":[{"given":"Hyung\u2010Goo","family":"Kim","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne W.","family":"Higgins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven R.","family":"Herrick","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shotaro","family":"Kishikawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"Nicholson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerstin","family":"Kutsche","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Azra H.","family":"Ligon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David J.","family":"Harris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcy E.","family":"MacDonald","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gail A.P.","family":"Bruns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia C.","family":"Morton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bradley J.","family":"Quade","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Gusella","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,12,12]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"349","article-title":"Elephantiasis gingivae: Report of an affected family with associated hepatomegaly, soft tissue, and skeletal abnormalities","volume":"37","author":"Alavandar G","year":"1965","journal-title":"J All India Dent Assoc"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-4388(03)00066-7"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-005-0048-1"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980827)79:1<27::AID-AJMG7>3.0.CO;2-F"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0714.1990.tb00865.x"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cellbio.16.1.521"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250317"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/84781"},{"key":"e_1_2_5_10_1","first-page":"283","article-title":"Zimmermann\u2013Laband syndrome: Further clinical delineation","volume":"16","author":"Davalos IP","year":"2005","journal-title":"Genet Couns"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310326"},{"key":"e_1_2_5_12_1","first-page":"409","article-title":"The radiological diagnosis of the fetal\u2010face (=\u2009Robinow) syndrome (mesomelic dwarfism and small genitalia). 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