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BFLS patients present with short stature. We report a mouse model of BFLS, in which deletion of Phf6 causes a proportional reduction in body size compared to control mice. Growth hormone (GH) levels were reduced in the absence of PHF6. Phf6\u2212\/Y animals displayed a reduction in the expression of the genes encoding GH releasing hormone (GHRH) in the brain, GH in the pituitary gland and insulin-like growth factor-1 (IGF-1) in the liver. Phf6 deletion specifically in the nervous system caused a proportional growth defect, indicating neuroendocrine contribution to the phenotype. Loss of suppressor of cytokine signaling 2 (SOCS2), a negative regulator of growth hormone signaling partially rescued body size, supporting a reversible deficiency in GH signaling. These results demonstrate that PHF6 regulates the GHRH\/GH\/IGF-1 axis.<\/jats:p>","DOI":"10.1242\/dev.187021","type":"journal-article","created":{"date-parts":[[2020,9,29]],"date-time":"2020-09-29T17:56:52Z","timestamp":1601402212000},"source":"Crossref","is-referenced-by-count":4,"title":["Downregulation of the GHRH\/GH\/IGF-1 axis in a mouse model of B\u00f6rjeson-Forssman-Lehman Syndrome"],"prefix":"10.1242","author":[{"given":"Helen M.","family":"McRae","sequence":"first","affiliation":[{"name":"Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria 3052, Australia"},{"name":"Department of Medical Biology, The University of Melbourne, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha","family":"Eccles","sequence":"additional","affiliation":[{"name":"Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria 3052, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lachlan","family":"Whitehead","sequence":"additional","affiliation":[{"name":"Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria 3052, Australia"},{"name":"Department of Medical Biology, The University of Melbourne, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Warren S.","family":"Alexander","sequence":"additional","affiliation":[{"name":"Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria 3052, Australia"},{"name":"Department of Medical Biology, The University of Melbourne, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jozef","family":"G\u00e9cz","sequence":"additional","affiliation":[{"name":"Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tim","family":"Thomas","sequence":"additional","affiliation":[{"name":"Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria 3052, Australia"},{"name":"Department of Medical Biology, The University of Melbourne, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3853-9381","authenticated-orcid":false,"given":"Anne K.","family":"Voss","sequence":"additional","affiliation":[{"name":"Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria 3052, Australia"},{"name":"Department of Medical Biology, The University of Melbourne, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"237","published-online":{"date-parts":[[2020,1,1]]},"reference":[{"key":"2021042700571386600_DEV187021C1","doi-asserted-by":"publisher","first-page":"56","DOI":"10.1016\/S0968-0004(00)88957-4","article-title":"The PHD finger: implications for chromatin-mediated transcriptional regulation","volume":"20","author":"Aasland","year":"1995","journal-title":"Trends Biochem. 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