{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T23:45:55Z","timestamp":1791071155728,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"22","license":[{"start":{"date-parts":[[2008,10,16]],"date-time":"2008-10-16T00:00:00Z","timestamp":1224115200000},"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":[[2008,11,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Here we report on a 1\u2010year\u2010old Japanese girl with psychomotor retardation, bilateral congenital corneal opacity and bilateral postaxial polysyndactyly of the feet. Although she had a normal female karyotype, our in\u2010house bacterial artificial chromosome (BAC)\u2010based array\u2010CGH analysis successfully detected at least a 2.7\u2010Mb heterozygous deletion at 14q22.1\u2013q22.3 harboring 18 protein\u2010coding genes. Among the genes, <jats:italic>BMP4<\/jats:italic> was a candidate for the gene causing the abnormalities of both the eye and digits. It was previously reported that the BMP family was correlated with the morphogenesis of digits and ocular development, and <jats:italic>Bmp4<\/jats:italic> heterozygous null mice revealed skeletal abnormalities including polydactyly and ocular anterior segment abnormalities. Patients with a deletion including <jats:italic>BMP4<\/jats:italic> also hadabnormalities of the eye and digits. These previous reports support that a haplo\u2010insufficiency of the <jats:italic>BMP4<\/jats:italic> gene likely caused the congenital ocular and digit abnormalities. Moreover, among the other genes contained in the deletion, <jats:italic>GMFB<\/jats:italic> is a candidate for the gene responsible for the psychomotor retardation. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32519","type":"journal-article","created":{"date-parts":[[2008,10,17]],"date-time":"2008-10-17T01:01:20Z","timestamp":1224205280000},"page":"2905-2910","source":"Crossref","is-referenced-by-count":28,"title":["Heterozygous deletion at 14q22.1\u2013q22.3 including the <i>BMP4<\/i> gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly"],"prefix":"10.1002","volume":"146A","author":[{"given":"Shin","family":"Hayashi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuhiko","family":"Okamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshio","family":"Makita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Hata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Issei","family":"Imoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johji","family":"Inazawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,10,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10146"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.023"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng2107"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.0020216"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.4.280"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1159\/000056919"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1997.8664"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1997.8664"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.3.251"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2002.0752"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30982"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0127-4"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1349-7006.2004.tb02486.x"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980501)77:2<162::AID-AJMG10>3.0.CO;2-L"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.10.3901"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.brainres.2004.08.003"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1097-2765(01)00223-4"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31335"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/342208"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.08.024"},{"key":"e_1_2_6_22_1","volume-title":"An international system for human cytogenetic nomenclature","author":"Shaffer LG","year":"2005"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1159\/000106434"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1086\/379977"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.9.17.2105"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1086\/427762"}],"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.32519","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32519","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T18:56:28Z","timestamp":1699988188000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32519"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,10,27]]},"references-count":26,"journal-issue":{"issue":"22","published-print":{"date-parts":[[2008,11,15]]}},"alternative-id":["10.1002\/ajmg.a.32519"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32519","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,10,27]]}}}