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Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1.
J Clin Endocrinol Metab. 2000 Nov;85(11):4060-8. doi: 10.1210/jcem.85.11.6897.
J Clin Endocrinol Metab. 2000.
PMID: 11095433
Two novel mutations in splice donor sites of CYP11B1 in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Chabre O, Portrat-Doyen S, Vivier J, Morel Y, Defaye G.
Chabre O, et al. Among authors: portrat doyen s.
Endocr Res. 2000 Nov;26(4):797-801. doi: 10.3109/07435800009048602.
Endocr Res. 2000.
PMID: 11196457
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A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia.
Flück CE, Maret A, Mallet D, Portrat-Doyen S, Achermann JC, Leheup B, Theintz GE, Mullis PE, Morel Y.
Flück CE, et al. Among authors: portrat doyen s.
J Clin Endocrinol Metab. 2005 Sep;90(9):5304-8. doi: 10.1210/jc.2005-0874. Epub 2005 Jun 28.
J Clin Endocrinol Metab. 2005.
PMID: 15985476
Free article.
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Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.
Portrat-Doyen S, Tourniaire J, Richard O, Mulatero P, Aupetit-Faisant B, Curnow KM, Pascoe L, Morel Y.
Portrat-Doyen S, et al.
J Clin Endocrinol Metab. 1998 Nov;83(11):4156-61. doi: 10.1210/jcem.83.11.5258.
J Clin Endocrinol Metab. 1998.
PMID: 9814506
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