{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T04:37:29Z","timestamp":1789706249959,"version":"4.0.1"},"reference-count":27,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2003,7]]},"abstract":"<jats:p>\n                    We have recently shown that Okihiro syndrome results from mutation in the putative zinc finger transcription factor gene\n                    <jats:italic>SALL4<\/jats:italic>\n                    on chromosome 20q13.13-13.2. There is considerable overlap of clinical features of Okihiro syndrome with other conditions, most notably Holt-Oram syndrome, a condition in part resulting from mutation of the\n                    <jats:italic>TBX5<\/jats:italic>\n                    locus, as well as acro-renal-ocular syndrome. We analysed further families\/patients with the clinical diagnosis of Holt-Oram syndrome and acro-renal-ocular syndrome for\n                    <jats:italic>SALL4<\/jats:italic>\n                    mutations. We identified a novel\n                    <jats:italic>SALL4<\/jats:italic>\n                    mutation in one family where the father was originally thought to have thalidomide embryopathy and had a daughter with a similar phenotype. We also found two novel mutations in two German families originally diagnosed as Holt-Oram syndrome and a further mutation in one out of two families carrying the diagnosis acro-renal-ocular syndrome. Our results show that some cases of \u201cthalidomide embryopathy\u201d might be the result of\n                    <jats:italic>SALL4<\/jats:italic>\n                    mutations, resulting in an increased risk for similarly affected offspring. Furthermore we confirm the overlap of acro-renal-ocular syndrome with Okihiro syndrome at the molecular level and expand the phenotype of\n                    <jats:italic>SALL4<\/jats:italic>\n                    mutations.\n                  <\/jats:p>","DOI":"10.1136\/jmg.40.7.473","type":"journal-article","created":{"date-parts":[[2003,7,3]],"date-time":"2003-07-03T19:36:00Z","timestamp":1057260960000},"page":"473-478","source":"Crossref","is-referenced-by-count":157,"title":["Mutations at the\n                    <i>SALL4<\/i>\n                    locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy"],"prefix":"10.1136","volume":"40","author":[{"given":"J","family":"Kohlhase","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Schubert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Liebers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Rauch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Becker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S 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