| 1 | LHX4, PCDST
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| A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism.
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| Castinetti F, Saveanu A, Reynaud R, Quentien MH, Buffin A, Brauner R, Kaffel N, Albarel F, Guedj AM, El Kholy M, Amin M, Enjalbert A, Barlier A, Brue T.
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| J Clin Endocrinol Metab 93(7):2790-9. Epub 2008 Apr 29. 2008
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| 2 | LHX4, PCDST
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| Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
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| Pfaeffle RW, Hunter CS, Savage JJ, Duran-Prado M, Mullen RD, Neeb ZP, Eiholzer U, Hesse V, Haddad NG, Stobbe HM, Blum WF, Weigel JF, Rhodes SJ.
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| J Clin Endocrinol Metab 93(3):1062-71. Epub 2007 Dec 11.
2008
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| 3 | LHX4, PCDST
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| A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.
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| Tajima T, Hattori T, Nakajima T, Okuhara K, Tsubaki J, Fujieda K.
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| Endocr J 54(4):637-41. Epub 2007 May 25.PMID: 17527005 2007
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| 4 | PCDST, LHX4
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| Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.
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| Machinis K, Pantel J, Netchine I, Leger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S.
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| Am J Hum Genet 69(5):961-8. Epub 2001 Sep 20. 2001
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