{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T07:34:04Z","timestamp":1790494444694,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T00:00:00Z","timestamp":1376611200000},"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":[[2013,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      The phenotypic similarities have been demonstrated between non\u2010lethal campomelic dysplasia (CD) and small patella syndrome (SPS), in which different genetic defects have been identified. We report on a familial case of skeletal dysplasia with overlapping phenotype of mild CD and SPS, including defective ischio\u2010pubic ossification, elongated femoral neck, hypoplastic patellae, and increased space between the first and the second toes (sandal gap). Direct sequencing analysis demonstrated a novel missense mutation (p.H169Q) within the coding region of the\n                      <jats:italic>SOX9<\/jats:italic>\n                      gene and negative for\n                      <jats:italic>TBX4<\/jats:italic>\n                      mutations. Functional analysis of the p.H169Q mutant revealed reduced but not fully abolished transactivation capacity of the mutated protein. Retained residual\n                      <jats:italic>SOX9<\/jats:italic>\n                      function might contribute to an extremely mild CD phenotype in the present cases. \u00a9 2013 Wiley Periodicals, Inc.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36134","type":"journal-article","created":{"date-parts":[[2013,8,16]],"date-time":"2013-08-16T13:31:06Z","timestamp":1376659866000},"page":"2528-2534","source":"Crossref","is-referenced-by-count":29,"title":["A novel\n                    <i>SOX9<\/i>\n                    H169Q mutation in a family with overlapping phenotype of mild campomelic dysplasia and small patella syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Masaki","family":"Matsushita","sequence":"first","affiliation":[{"name":"Department of Orthopaedic Surgery Nagoya University Graduate School of Medicine Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Kitoh","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery Nagoya University Graduate School of Medicine Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroshi","family":"Kaneko","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery Nagoya University Graduate School of Medicine Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenichi","family":"Mishima","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery Nagoya University Graduate School of Medicine Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Izumi","family":"Kadono","sequence":"additional","affiliation":[{"name":"Department of Rehabilitation Nagoya University Graduate School of Medicine Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoki","family":"Ishiguro","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery Nagoya University Graduate School of Medicine Nagoya Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Pediatric Imaging Tokyo Metropolitan Children's Medical Center Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,8,16]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/421331"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000322861"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bti486"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/372525a0"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/429254"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0034703"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32830"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.16.8.4512"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.32.6.415"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.8.597"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1159\/000176299"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.274.34.24023"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/6.1.91"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00504"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.9.e50"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1515\/jpem.2010.187"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1086\/302455"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31631"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21238"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00474"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33107"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90041-8"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0177(199708)209:4<377::AID-AJA5>3.0.CO;2-F"}],"container-title":["American 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