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Regarding the consensus statement on 21-hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology.
Creighton S, Ransley P, Duffy P, Wilcox D, Mushtaq I, Cuckow P, Woodhouse C, Minto C, Crouch N, Stanhope R, Hughes I, Dattani M, Hindmarsh P, Brain C, Achermann J, Conway G, Liao LM, Barnicoat A, Perry L. Creighton S, et al. J Clin Endocrinol Metab. 2003 Jul;88(7):3455; author reply 3456. doi: 10.1210/jc.2003-030127. J Clin Endocrinol Metab. 2003. PMID: 12843205 No abstract available.
Variable phenotypes associated with aromatase (CYP19) insufficiency in humans.
Lin L, Ercan O, Raza J, Burren CP, Creighton SM, Auchus RJ, Dattani MT, Achermann JC. Lin L, et al. Among authors: achermann jc. J Clin Endocrinol Metab. 2007 Mar;92(3):982-90. doi: 10.1210/jc.2006-1181. Epub 2006 Dec 12. J Clin Endocrinol Metab. 2007. PMID: 17164303 Free PMC article.
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
Lin L, Philibert P, Ferraz-de-Souza B, Kelberman D, Homfray T, Albanese A, Molini V, Sebire NJ, Einaudi S, Conway GS, Hughes IA, Jameson JL, Sultan C, Dattani MT, Achermann JC. Lin L, et al. Among authors: achermann jc. J Clin Endocrinol Metab. 2007 Mar;92(3):991-9. doi: 10.1210/jc.2006-1672. Epub 2007 Jan 2. J Clin Endocrinol Metab. 2007. PMID: 17200175 Free PMC article.
137 results