{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:23:36Z","timestamp":1792787016486,"version":"4.5.0"},"reference-count":10,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2016,1,20]],"date-time":"2016-01-20T00:00:00Z","timestamp":1453248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Dijon University Hospital and the Regional Council of Burgundy"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2016,5]]},"abstract":"<jats:p>\n                    The acidic fibroblast growth factor (\n                    <jats:styled-content style=\"fixed-case\">FGF<\/jats:styled-content>\n                    ) intracellular binding protein (\n                    <jats:styled-content style=\"fixed-case\">FIBP<\/jats:styled-content>\n                    ) interacts directly with the fibroblast growth factor\n                    <jats:styled-content style=\"fixed-case\">FGF1<\/jats:styled-content>\n                    . Although\n                    <jats:styled-content style=\"fixed-case\">FIBP<\/jats:styled-content>\n                    is known to be implicated in the\n                    <jats:styled-content style=\"fixed-case\">FGF<\/jats:styled-content>\n                    signaling pathway, its precise function remains unclear. Gain\u2010of\u2010function variants in several\n                    <jats:styled-content style=\"fixed-case\">FGF<\/jats:styled-content>\n                    receptors (\n                    <jats:styled-content style=\"fixed-case\">FGFRs<\/jats:styled-content>\n                    ) are implicated in a wide spectrum of growth disorders from achondroplasia to overgrowth syndromes. In a unique case from a consanguineous union presenting with overgrowth, macrocephaly, retinal coloboma, large thumbs, severe varicose veins and learning disabilities, exome sequencing identified a homozygous nonsense\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">FIBP<\/jats:styled-content>\n                    <\/jats:italic>\n                    variant. The patient's fibroblasts exhibit\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">FIBP<\/jats:styled-content>\n                    <\/jats:italic>\n                    <jats:styled-content style=\"fixed-case\">cDNA<\/jats:styled-content>\n                    degradation and an increased proliferation capacity compared with controls. The phenotype defines a new multiple congenital abnormalities (\n                    <jats:styled-content style=\"fixed-case\">MCA<\/jats:styled-content>\n                    ) syndrome, overlapping with the heterogeneous group of overgrowth syndromes with macrocephaly. The different clinical features can be explained by the alteration of the\n                    <jats:styled-content style=\"fixed-case\">FGFR<\/jats:styled-content>\n                    pathway. Taken together, these results suggest the implication of\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">FIBP<\/jats:styled-content>\n                    <\/jats:italic>\n                    in a new autosomal recessive\n                    <jats:styled-content style=\"fixed-case\">MCA<\/jats:styled-content>\n                    .\n                  <\/jats:p>","DOI":"10.1111\/cge.12704","type":"journal-article","created":{"date-parts":[[2015,12,10]],"date-time":"2015-12-10T04:34:58Z","timestamp":1449722098000},"source":"Crossref","is-referenced-by-count":22,"title":["Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities"],"prefix":"10.1111","volume":"89","author":[{"given":"C.","family":"Thauvin\u2010Robinet","sequence":"first","affiliation":[{"name":"FHU\u2010TRANSLAD  CHU Dijon France"},{"name":"Equipe EA4271 GAD Universit\u00e9 de Bourgogne  Dijon France"},{"name":"Centre de R\u00e9f\u00e9rence Maladies Rares, Anomalies du D\u00e9veloppement et Syndrome Malformatifs de l'Est et Centre de G\u00e9n\u00e9tique, H\u00f4pital d'Enfants, CHU  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Duplomb\u2010Jego","sequence":"additional","affiliation":[{"name":"FHU\u2010TRANSLAD  CHU Dijon France"},{"name":"Equipe EA4271 GAD Universit\u00e9 de Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Limoge","sequence":"additional","affiliation":[{"name":"FHU\u2010TRANSLAD  CHU Dijon France"},{"name":"Equipe EA4271 GAD Universit\u00e9 de Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Picot","sequence":"additional","affiliation":[{"name":"FHU\u2010TRANSLAD  CHU Dijon France"},{"name":"Equipe EA4271 GAD Universit\u00e9 de Bourgogne  Dijon 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D\u00e9veloppement et Syndrome Malformatifs de l'Est et Centre de G\u00e9n\u00e9tique, H\u00f4pital d'Enfants, CHU  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"St\u2010Onge","sequence":"additional","affiliation":[{"name":"FHU\u2010TRANSLAD  CHU Dijon France"},{"name":"Equipe EA4271 GAD Universit\u00e9 de Bourgogne  Dijon France"},{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire, PTB, CHU  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Kuentz","sequence":"additional","affiliation":[{"name":"FHU\u2010TRANSLAD  CHU Dijon France"},{"name":"Equipe EA4271 GAD Universit\u00e9 de Bourgogne  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.","family":"Duffourd","sequence":"additional","affiliation":[{"name":"FHU\u2010TRANSLAD  CHU Dijon France"},{"name":"Equipe EA4271 GAD Universit\u00e9 de Bourgogne  Dijon 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