| 1 | CYP11A1, CYP11A1D
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| Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.
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| Tee MK, Abramsohn M, Loewenthal N, Harris M, Siwach S, Kaplinsky A, Markus B, Birk O, Sheffield VC, Parvari R, Hershkovitz E, Miller WL.
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| J Clin Endocrinol Metab 98(2):713-20. doi: 10.1210/jc.2012-2828. Epub 2013 Jan 21. Erratum in: J Clin Endocrinol Metab. 2013 Oct;98(10):4213. Pavari, Ru 2013
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| 2 | CYP11A1, CYP11A1D
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| A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient.
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| Rubtsov P, Karmanov M, Sverdlova P, Spirin P, Tiulpakov A.
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| J Clin Endocrinol Metab 94(3):936-9. Epub 2008 Dec 30.
2009
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| 3 | CYP11A1, CYP11A1D
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| Expression of aromatase, estrogen receptor alpha and beta, androgen receptor, and cytochrome P-450scc in the human early prepubertal testis.
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| Berensztein EB, Baquedano MS, Gonzalez CR, Saraco NI, Rodriguez J, Ponzio R, Rivarola MA, Belgorosky A.
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| Pediatr Res 60(6):740-4. Epub 2006 Oct 25. 2006
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| 4 | CYP11A1, CYP11A1D
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| Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia.
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| Lin D, et al.
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| J Clin Invest 88 : 1955-1962. 1991
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