{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T10:14:37Z","timestamp":1785924877516,"version":"3.56.0"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2014,9,25]],"date-time":"2014-09-25T00:00:00Z","timestamp":1411603200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Hum Genome Var"],"DOI":"10.1038\/hgv.2014.11","type":"journal-article","created":{"date-parts":[[2014,9,25]],"date-time":"2014-09-25T07:03:09Z","timestamp":1411628589000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["A novel KAL1 mutation is associated with combined pituitary hormone deficiency"],"prefix":"10.1038","volume":"1","author":[{"given":"Masaki","family":"Takagi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoshi","family":"Narumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riku","family":"Hamada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yukihiro","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomonobu","family":"Hasegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,9,25]]},"reference":[{"key":"BFhgv201411_CR1","doi-asserted-by":"publisher","first-page":"423","DOI":"10.1016\/0092-8674(91)90193-3","volume":"67","author":"R Legouis","year":"1991","unstructured":"Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V et al. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 1991; 67: 423\u2013435.","journal-title":"Cell"},{"key":"BFhgv201411_CR2","doi-asserted-by":"publisher","first-page":"463","DOI":"10.1038\/ng1122","volume":"33","author":"C Dod\u00e9","year":"2003","unstructured":"Dod\u00e9 C, Levilliers J, Dupont JM, De Paepe A, Le D\u00fb N, Soussi-Yanicostas N et al. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 2003; 33: 463\u2013465.","journal-title":"Nat Genet"},{"key":"BFhgv201411_CR3","doi-asserted-by":"publisher","first-page":"1648","DOI":"10.1371\/journal.pgen.0020175","volume":"2","author":"C Dod\u00e9","year":"2006","unstructured":"Dod\u00e9 C, Teixeira L, Levilliers J, Fouveaut C, Bouchard P, Kottler ML et al. Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. PLoS Genet 2006; 2: 1648\u20131652.","journal-title":"PLoS Genet"},{"key":"BFhgv201411_CR4","doi-asserted-by":"publisher","first-page":"741","DOI":"10.1507\/endocrj.K06-099","volume":"53","author":"T Ogata","year":"2006","unstructured":"Ogata T, Fujiwara I, Ogawa E, Sato N, Udaka T, Kosaki K . Kallmann syndrome phenotype in a female patient with CHARGE syndrome and CHD7 mutation. Endocr J 2006; 53: 741\u2013743.","journal-title":"Endocr J"},{"key":"BFhgv201411_CR5","doi-asserted-by":"publisher","first-page":"2822","DOI":"10.1172\/JCI34538","volume":"118","author":"J Falardeau","year":"2008","unstructured":"Falardeau J, Chung WC, Beenken A, Raivio T, Plummer L, Sidis Y et al. Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice. J Clin Invest 2008; 118: 2822\u20132831.","journal-title":"J Clin Invest"},{"key":"BFhgv201411_CR6","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1111\/j.1399-0004.2008.01107.x","volume":"75","author":"MC Jongmans","year":"2009","unstructured":"Jongmans MC, van Ravenswaaij-Arts CM, Pitteloud N, Ogata T, Sato N, Claahsen-van der Grinten HL et al. CHD7 mutations in patients initially diagnosed with Kallmann syndrome \u2013 the clinical overlap with CHARGE syndrome. Clin Genet 2009; 75: 65\u201371.","journal-title":"Clin Genet"},{"key":"BFhgv201411_CR7","doi-asserted-by":"publisher","first-page":"E694","DOI":"10.1210\/jc.2011-2938","volume":"97","author":"T Raivio","year":"2012","unstructured":"Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J et al. Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. J Clin Endocrinol Metab 2012; 97: E694\u2013E699.","journal-title":"J Clin Endocrinol Metab"},{"key":"BFhgv201411_CR8","doi-asserted-by":"publisher","first-page":"E1068","DOI":"10.1210\/jc.2011-3056","volume":"97","author":"R Reynaud","year":"2012","unstructured":"Reynaud R, Jayakody SA, Monnier C, Saveanu A, Bouligand J, Guedj AM et al. PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption. J Clin Endocrinol Metab 2012; 97: E1068\u2013E1073.","journal-title":"J Clin Endocrinol Metab"},{"key":"BFhgv201411_CR9","doi-asserted-by":"publisher","first-page":"E547","DOI":"10.1210\/jc.2012-3067","volume":"98","author":"MJ McCabe","year":"2013","unstructured":"McCabe MJ, Gaston-Massuet C, Gregory LC, Alatzoglou KS, Tziaferi V, Sbai O et al. Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. J Clin Endocrinol Metab 2013; 98: E547\u2013E557.","journal-title":"J Clin Endocrinol Metab"},{"key":"BFhgv201411_CR10","doi-asserted-by":"publisher","first-page":"1013","DOI":"10.1507\/endocrj.EJ13-0023","volume":"60","author":"M Fukami","year":"2013","unstructured":"Fukami M, Iso M, Sato N, Igarashi M, Seo M, Kazukawa I et al. Submicroscopic deletion involving the fibroblast growth factor receptor 1 gene in a patient with combined pituitary hormone deficiency. Endocr J 2013; 60: 1013\u20131020.","journal-title":"Endocr J"},{"key":"BFhgv201411_CR11","first-page":"213","volume":"82","author":"NA Georgopoulos","year":"1997","unstructured":"Georgopoulos NA, Pralong FP, Seidman CE, Seidman JG, Crowley Jr WF, Vallejo M . Genetic heterogeneity evidenced by low incidence of KAL-1 gene mutations in sporadic cases of gonadotropin-releasing hormone deficiency. J Clin Endocrinol Metab 1997; 82: 213\u2013217.","journal-title":"J Clin Endocrinol Metab"},{"key":"BFhgv201411_CR12","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1007\/s00109-004-0571-y","volume":"82","author":"C Dod\u00e9","year":"2004","unstructured":"Dod\u00e9 C, Hardelin JP. Kallmann syndrome: fibroblast growth factor signaling insufficiency? J Mol Med 2004; 82: 725\u2013734.","journal-title":"J Mol Med"},{"key":"BFhgv201411_CR13","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1016\/S0925-4773(00)00393-2","volume":"96","author":"S Norlin","year":"2000","unstructured":"Norlin S, Nordstr\u00f6m U, Edlund T . Fibroblast growth factor signaling is required for the proliferation and patterning of progenitor cells in the developing anterior pituitary. Mech Dev 2000; 96: 175\u2013182.","journal-title":"Mech Dev"},{"key":"BFhgv201411_CR14","first-page":"111","volume":"78S1","author":"MJ McCabe","year":"2012","unstructured":"McCabe MJ, Hu Y, Gregory LC, Thankamony A, Hughes L, Townshend S et al. Novel KAL1 sequence variants associated with septo-optic dysplasia (SOD) in three female patients. Horm Res 2012; 78S1: 111.","journal-title":"Horm Res"},{"key":"BFhgv201411_CR15","doi-asserted-by":"publisher","first-page":"142","DOI":"10.1159\/000312700","volume":"39","author":"N Pitteloud","year":"2010","unstructured":"Pitteloud N, Durrani S, Raivio T, Sykiotis GP . Complex genetics in idiopathic hypogonadotropic hypogonadism. Front Horm Res 2010; 39: 142\u2013153.","journal-title":"Front Horm Res"},{"key":"BFhgv201411_CR16","doi-asserted-by":"publisher","first-page":"15140","DOI":"10.1073\/pnas.1009622107","volume":"34","author":"GP Sykiotis","year":"2010","unstructured":"Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, Nayak-Young S et al. Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci USA 2010; 34: 15140\u201315144.","journal-title":"Proc Natl Acad Sci USA"},{"key":"BFhgv201411_CR17","doi-asserted-by":"publisher","first-page":"1079","DOI":"10.1210\/jc.2003-030476","volume":"89","author":"N Sato","year":"2004","unstructured":"Sato N, Katsumata N, Kagami M, Hasegawa T, Hori N, Kawakita S et al. Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. J Clin Endocrinol Metab 2004; 89: 1079\u20131088.","journal-title":"J Clin Endocrinol Metab"},{"key":"BFhgv201411_CR18","doi-asserted-by":"publisher","DOI":"10.6084\/m9.figshare.hgv.505","author":"Tomonobu Hasegawa","year":"2014","unstructured":"Hasegawa, Tomonobu HGV Database http:\/\/dx.doi.org\/10.6084\/m9.figshare.hgv.505 (2014)"}],"container-title":["Human Genome Variation"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/hgv201411.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/hgv201411","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/hgv201411.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,6]],"date-time":"2023-01-06T00:16:25Z","timestamp":1672964185000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/hgv201411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9,25]]},"references-count":18,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2014,12,4]]}},"alternative-id":["BFhgv201411"],"URL":"https:\/\/doi.org\/10.1038\/hgv.2014.11","relation":{"references":[{"id-type":"doi","id":"10.6084\/m9.figshare.hgv.505","asserted-by":"subject"}]},"ISSN":["2054-345X"],"issn-type":[{"value":"2054-345X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,9,25]]},"assertion":[{"value":"10 August 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 August 2014","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 August 2014","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 September 2014","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no conflict of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"14011"}}