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We describe three sisters affected with severe isolated growth hormone deficiency and pituitary hypoplasia caused by biallelic mutations in the\n                    <jats:italic>RNPC3<\/jats:italic>\n                    gene, which codes for a minor spliceosome protein required for U11\/U12 small nuclear ribonucleoprotein (snRNP) formation and splicing of U12\u2010type introns. We found anomalies in U11\/U12 di\u2010snRNP formation and in splicing of multiple U12\u2010type introns in patient cells. Defective transcripts include preprohormone convertases\n                    <jats:italic>SPCS2<\/jats:italic>\n                    and\n                    <jats:italic>SPCS3<\/jats:italic>\n                    and actin\u2010related\n                    <jats:italic>ARPC5L<\/jats:italic>\n                    genes, which are candidates for the somatotroph\u2010restricted dysfunction. The reported novel mechanism for familial growth hormone deficiency demonstrates that general mRNA processing defects of the minor spliceosome can lead to very narrow tissue\u2010specific consequences.\n                  <\/jats:p>","DOI":"10.1002\/emmm.201303573","type":"journal-article","created":{"date-parts":[[2014,2,3]],"date-time":"2014-02-03T14:07:29Z","timestamp":1391436449000},"page":"299-306","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":102,"title":["Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency"],"prefix":"10.1038","volume":"6","author":[{"given":"Jes\u00fas","family":"Argente","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raquel","family":"Flores","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armand","family":"Guti\u00e9rrez\u2010Arum\u00ed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bhupendra","family":"Verma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel \u00c1","family":"Martos\u2010Moreno","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivon","family":"Cusc\u00f3","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Oghabian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie A","family":"Chowen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikko J","family":"Frilander","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis A","family":"P\u00e9rez\u2010Jurado","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,1,30]]},"reference":[{"key":"BFEMMM201303573_CR1","doi-asserted-by":"crossref","first-page":"D110","DOI":"10.1093\/nar\/gkl796","volume":"35","author":"TS Alioto","year":"2007","unstructured":"Alioto TS (2007) U12DB: a database of orthologous U12\u2010type spliceosome introns. 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