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Phenotypes Associated with SHOX Deficiency.
Ross JL, Scott C Jr, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR. Ross JL, et al. J Clin Endocrinol Metab. 2001 Dec;86(12):5674-80. doi: 10.1210/jcem.86.12.8125. J Clin Endocrinol Metab. 2001. PMID: 11739418
Complete SHOX deficiency causes Langer mesomelic dysplasia.
Zinn AR, Wei F, Zhang L, Elder FF, Scott CI Jr, Marttila P, Ross JL. Zinn AR, et al. Among authors: ross jl. Am J Med Genet. 2002 Jun 15;110(2):158-63. doi: 10.1002/ajmg.10422. Am J Med Genet. 2002. PMID: 12116254
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