{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T23:00:44Z","timestamp":1791327644084,"version":"4.3.1"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,6,2]],"date-time":"2016-06-02T00:00:00Z","timestamp":1464825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,12]]},"abstract":"<jats:p>\n                    Taybi\u2010Linder syndrome (\n                    <jats:styled-content style=\"fixed-case\">TALS<\/jats:styled-content>\n                    ,\n                    <jats:styled-content style=\"fixed-case\">OMIM<\/jats:styled-content>\n                    210710) is a rare autosomal recessive disorder belonging to the group of microcephalic osteodysplastic primordial dwarfisms (\n                    <jats:styled-content style=\"fixed-case\">MOPD<\/jats:styled-content>\n                    ). This syndrome is characterized by short stature, skeletal anomalies, severe microcephaly with brain malformations and facial dysmorphism, and is caused by mutations in\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">RNU4ATAC<\/jats:styled-content>\n                    <\/jats:italic>\n                    .\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">RNU4ATAC<\/jats:styled-content>\n                    <\/jats:italic>\n                    is transcribed into a non\u2010coding small nuclear\n                    <jats:styled-content style=\"fixed-case\">RNA<\/jats:styled-content>\n                    which is a critical component of the minor spliceosome. We report here four foetuses and four unrelated patients with\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">RNU4ATAC<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutations. We provide antenatal descriptions of this rare syndrome including unusual features found in two twin foetuses with compound heterozygosity for two rare mutations who presented with mild intrauterine growth retardation and atypical dysmorphic facial features. We also carried out a literature review of the patients described up to now with\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">RNU4ATAC<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutations, affected either with\n                    <jats:styled-content style=\"fixed-case\">TALS<\/jats:styled-content>\n                    or Roifman syndrome, a recently described allelic disorder.\n                  <\/jats:p>","DOI":"10.1111\/cge.12781","type":"journal-article","created":{"date-parts":[[2016,4,4]],"date-time":"2016-04-04T08:30:15Z","timestamp":1459758615000},"page":"550-555","source":"Crossref","is-referenced-by-count":25,"title":["Refining the phenotypical and mutational spectrum of Taybi\u2010Linder syndrome"],"prefix":"10.1111","volume":"90","author":[{"given":"A.","family":"Putoux","sequence":"first","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Hospices Civils de Lyon  Lyon 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Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Michel","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique Hospices Civils de Lyon  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Besson","sequence":"additional","affiliation":[{"name":"Centre de Recherche en Neurosciences de Lyon, INSERM U1028, UMR CNRS 5292 Universit\u00e9 Claude Bernard Lyon 1  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Mazoyer","sequence":"additional","affiliation":[{"name":"Centre de Recherche en Neurosciences de Lyon, INSERM U1028, UMR CNRS 5292 Universit\u00e9 Claude Bernard Lyon 1  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Borg","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Malta Medical Genetics Unit, Mater Dei Hospital  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