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References

1. Balasubramanian R, Crowley WF Jr. Isolated Gonadotropin-Releasing Hormone(GnRH) Deficiency. 2007 May 23 [updated 2017 Mar 2]. In: Adam MP, Ardinger HH,Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK1334/
2. Bennett JT, Tan TY, Alcantara D, Tétrault M, Timms AE, Jensen D, Collins S,Nowaczyk MJM, Lindhurst MJ, Christensen KM, Braddock SR, Brandling-Bennett H,Hennekam RCM, Chung B, Lehman A, Su J, Ng S, Amor DJ; University of WashingtonCenter for Mendelian Genomics; Care4Rare Canada Consortium, Majewski J, BieseckerLG, Boycott KM, Dobyns WB, O'Driscoll M, Moog U, McDonell LM. Mosaic ActivatingMutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet.2016 Mar 3;98(3):579-587. doi: 10.1016/j.ajhg.2016.02.006.
3. Chokdeemboon C, Mahatumarat C, Rojvachiranonda N, Tongkobpetch S,Suphapeetiporn K, Shotelersuk V. FGFR1 and FGFR2 mutations in Pfeiffer syndrome. J Craniofac Surg. 2013 Jan;24(1):150-2. doi: 10.1097/SCS.0b013e3182646454.
4. Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N,Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D,Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML,Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP.Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.Nat Genet. 2003 Apr;33(4):463-5.
5. Elbauomy Elsheikh S, Green AR, Lambros MB, Turner NC, Grainge MJ, Powe D,Ellis IO, Reis-Filho JS. FGFR1 amplification in breast carcinomas: a chromogenic in situ hybridisation analysis. Breast Cancer Res. 2007;9(2):R23.
6. Farrow EG, Davis SI, Mooney SD, Beighton P, Mascarenhas L, Gutierrez YR,Pitukcheewanont P, White KE. Extended mutational analyses of FGFR1 inosteoglophonic dysplasia. Am J Med Genet A. 2006 Mar 1;140(5):537-9.
7. Jiang T, Gao G, Fan G, Li M, Zhou C. FGFR1 amplification in lung squamous cellcarcinoma: a systematic review with meta-analysis. Lung Cancer. 2015Jan;87(1):1-7. doi: 10.1016/j.lungcan.2014.11.009.
8. Kim SH, Hu Y, Cadman S, Bouloux P. Diversity in fibroblast growth factorreceptor 1 regulation: learning from the investigation of Kallmann syndrome. JNeuroendocrinol. 2008 Feb;20(2):141-63.
9. Macdonald D, Reiter A, Cross NC. The 8p11 myeloproliferative syndrome: adistinct clinical entity caused by constitutive activation of FGFR1. ActaHaematol. 2002;107(2):101-7. Review.
10. Pitteloud N, Acierno JS Jr, Meysing A, Eliseenkova AV, Ma J, Ibrahimi OA,Metzger DL, Hayes FJ, Dwyer AA, Hughes VA, Yialamas M, Hall JE, Grant E,Mohammadi M, Crowley WF Jr. Mutations in fibroblast growth factor receptor 1cause both Kallmann syndrome and normosmic idiopathic hypogonadotropichypogonadism. Proc Natl Acad Sci U S A. 2006 Apr 18;103(16):6281-6.
11. Simonis N, Migeotte I, Lambert N, Perazzolo C, de Silva DC, Dimitrov B,Heinrichs C, Janssens S, Kerr B, Mortier G, Van Vliet G, Lepage P, Casimir G,Abramowicz M, Smits G, Vilain C. FGFR1 mutations cause Hartsfield syndrome, theunique association of holoprosencephaly and ectrodactyly. J Med Genet. 2013Sep;50(9):585-92. doi: 10.1136/jmedgenet-2013-101603.
12. Villanueva C, de Roux N. FGFR1 mutations in Kallmann syndrome. Front Horm Res.2010;39:51-61. doi: 10.1159/000312693.
13. White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, Yu X, Shaw NJ, McLellan NJ, McKeown C, Fitzpatrick D, Yu K, Ornitz DM, Econs MJ.Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 inbone elongation. Am J Hum Genet. 2005 Feb;76(2):361-7.