{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T00:46:49Z","timestamp":1787014009025,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,2,22]],"date-time":"2017-02-22T00:00:00Z","timestamp":1487721600000},"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":[[2017,7]]},"abstract":"<jats:p>\n                    Steroidogenic factor 1 (encoded by\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">SF1<\/jats:styled-content>\n                      \/\n                      <jats:styled-content style=\"fixed-case\">NR5A1<\/jats:styled-content>\n                    <\/jats:italic>\n                    ) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non\u2010steroidogenic tissues.\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">NR5A1<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">NR5A1<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutations in spleen development anomalies was recently highlighted. We provide new evidence of this involvement, describing a novel heterozygous non\u2010sense\n                    <jats:italic>\n                      <jats:styled-content style=\"fixed-case\">NR5A1<\/jats:styled-content>\n                    <\/jats:italic>\n                    mutation in a 46,\n                    <jats:styled-content style=\"fixed-case\">XY\u2010DSD<\/jats:styled-content>\n                    with polysplenia female proband and her father, who had hypospadias and asplenia.\n                  <\/jats:p>","DOI":"10.1111\/cge.12957","type":"journal-article","created":{"date-parts":[[2016,12,29]],"date-time":"2016-12-29T01:58:23Z","timestamp":1482976703000},"page":"99-103","source":"Crossref","is-referenced-by-count":25,"title":["<scp>SF1<\/scp>\n                    and spleen development: new heterozygous mutation, literature review and consequences for\n                    <i>\n                      <scp>NR5A1<\/scp>\n                      \u2010\n                    <\/i>\n                    mutated patient's management"],"prefix":"10.1111","volume":"92","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1664-2775","authenticated-orcid":false,"given":"C.","family":"Colson","sequence":"first","affiliation":[{"name":"CHU Lille Clinique de G\u00e9n\u00e9tique Guy Fontaine  Lille France"},{"name":"EA 7364, RADEME, Maladies RAres du D\u00e9veloppement et du M\u00e9tabolisme: du ph\u00e9notype au g\u00e9notype et \u00e0 la Fonction Universit\u00e9 de Lille  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Aubry","sequence":"additional","affiliation":[{"name":"CHU Lille Service de Chirurgie Visc\u00e9rale P\u00e9diatrique  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Cartigny","sequence":"additional","affiliation":[{"name":"EA 7364, RADEME, Maladies RAres du D\u00e9veloppement et du M\u00e9tabolisme: du ph\u00e9notype au g\u00e9notype et \u00e0 la Fonction 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