{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T15:49:46Z","timestamp":1777564186596,"version":"3.51.4"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2002,12,11]],"date-time":"2002-12-11T00:00:00Z","timestamp":1039564800000},"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":[[2003,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe the molecular analysis of three families with hypodontia involving primarily molar teeth and report two novel mutational mechanisms. Linkage analysis of two large families revealed that the hypodontia was linked to the <jats:italic>PAX9<\/jats:italic> locus. These two families revealed missense mutations consisting of a glutamic acid substitution for lysine and a proline substitution for leucine within the paired domain of PAX9. A pair of identical twins affected with hypodontia in a third family demonstrated a 288\u2010bp insertion within exon 2 that resulted in a putative frameshift mutation and a premature stop codon. The insertion was associated with the loss of 7\u2010bp from exon 2. A block of 256\u2010bp of sequence within the insertion was completely identical to downstream sequence from the second intron of the <jats:italic>PAX9<\/jats:italic> gene. These studies extend the spectrum of mutations in <jats:italic>PAX9<\/jats:italic> associated with hypodontia to include heretofore undescribed categories, including missense mutations. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10011","type":"journal-article","created":{"date-parts":[[2003,3,18]],"date-time":"2003-03-18T23:06:31Z","timestamp":1048028791000},"page":"35-42","source":"Crossref","is-referenced-by-count":91,"title":["Novel missense mutations and a 288\u2010bp exonic insertion in <i>PAX9<\/i> in families with autosomal dominant hypodontia"],"prefix":"10.1002","volume":"118A","author":[{"given":"Parimal","family":"Das","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehreen","family":"Hai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Claire","family":"Elcock","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Suzanne M.","family":"Leal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donald T.","family":"Brown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan H.","family":"Brook","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pragna I.","family":"Patel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,12,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1177\/00220345960750060401"},{"key":"e_1_2_6_3_1","first-page":"252","article-title":"Faster sequential genetic linkage computations","volume":"53","author":"Cottingham RW","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0699-1"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/0810129"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/321271"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1177\/00220345010800080701"},{"key":"e_1_2_6_8_1","first-page":"1252","article-title":"High\u2010yield noninvasive human genomic DNA isolation method for genetic studies in geographically dispersed families and populations","volume":"57","author":"Meulenbelt I","year":"1995","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00210412"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200715"},{"key":"e_1_2_6_11_1","volume-title":"Molecular cloning: A laboratory manual","author":"Sambrook J","year":"1989"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/71634"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1080\/000163500750051728"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/74155"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-417"}],"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.10011","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.10011","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T19:13:12Z","timestamp":1697656392000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.10011"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,12,11]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2003,4]]}},"alternative-id":["10.1002\/ajmg.a.10011"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.10011","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,12,11]]}}}