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GATA3 haplo-insufficiency causes human HDR syndrome.
Van Esch H, Groenen P, Nesbit MA, Schuffenhauer S, Lichtner P, Vanderlinden G, Harding B, Beetz R, Bilous RW, Holdaway I, Shaw NJ, Fryns JP, Van de Ven W, Thakker RV, Devriendt K. Van Esch H, et al. Among authors: thakker rv. Nature. 2000 Jul 27;406(6794):419-22. doi: 10.1038/35019088. Nature. 2000. PMID: 10935639
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda.
Christie PT, Curley A, Nesbit MA, Chapman C, Genet S, Harper PS, Keeling SL, Wilkie AO, Winter RM, Thakker RV. Christie PT, et al. Among authors: thakker rv. J Clin Endocrinol Metab. 2001 Jul;86(7):3233-6. doi: 10.1210/jcem.86.7.7688. J Clin Endocrinol Metab. 2001. PMID: 11443194
Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1.
Turner JJ, Leotlela PD, Pannett AA, Forbes SA, Bassett JH, Harding B, Christie PT, Bowen-Jones D, Ellard S, Hattersley A, Jackson CE, Pope R, Quarrell OW, Trembath R, Thakker RV. Turner JJ, et al. Among authors: thakker rv. J Clin Endocrinol Metab. 2002 Jun;87(6):2688-93. doi: 10.1210/jcem.87.6.8607. J Clin Endocrinol Metab. 2002. PMID: 12050235
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
Turner JJ, Stacey JM, Harding B, Kotanko P, Lhotta K, Puig JG, Roberts I, Torres RJ, Thakker RV. Turner JJ, et al. Among authors: thakker rv. J Clin Endocrinol Metab. 2003 Mar;88(3):1398-401. doi: 10.1210/jc.2002-021973. J Clin Endocrinol Metab. 2003. PMID: 12629136
382 results