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PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, Heinrichs C, Kuechler A, Mantovani G, Leheup B, Wicart P, Chassot V, Schmidt D, Rubio-Cabezas Ó, Richter-Unruh A, Berrade S, Pereda A, Boros E, Muñoz-Calvo MT, Castori M, Gunes Y, Bertrand G, Bougnères P, Clauser E, Silve C. Linglart A, et al. Among authors: holterhus pm. J Clin Endocrinol Metab. 2012 Dec;97(12):E2328-38. doi: 10.1210/jc.2012-2326. Epub 2012 Oct 5. J Clin Endocrinol Metab. 2012. PMID: 23043190 Clinical Trial.
Physiology and pathophysiology of androgen action.
Hiort O, Holterhus PM, Nitsche EM. Hiort O, et al. Among authors: holterhus pm. Baillieres Clin Endocrinol Metab. 1998 Apr;12(1):115-32. doi: 10.1016/s0950-351x(98)80495-3. Baillieres Clin Endocrinol Metab. 1998. PMID: 9890064 Review.
The molecular basis of male sexual differentiation.
Hiort O, Holterhus PM. Hiort O, et al. Among authors: holterhus pm. Eur J Endocrinol. 2000 Feb;142(2):101-10. doi: 10.1530/eje.0.1420101. Eur J Endocrinol. 2000. PMID: 10664515 Review.
178 results