Similar articles for PMID: 16906539

Year	Number of Results
1982	2
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1994	1
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1

Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency.

Williamson L, Arlt W, Shackleton C, Kelley RI, Braddock SR. Williamson L, et al. Am J Med Genet A. 2006 Sep 1;140A(17):1797-803. doi: 10.1002/ajmg.a.31385. Am J Med Genet A. 2006. PMID: 16906539

2

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.

Kelley RI, Kratz LE, Glaser RL, Netzloff ML, Wolf LM, Jabs EW. Kelley RI, et al. Am J Med Genet. 2002 Jun 15;110(2):95-102. doi: 10.1002/ajmg.10510. Am J Med Genet. 2002. PMID: 12116245

3

Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.

Cragun DL, Trumpy SK, Shackleton CH, Kelley RI, Leslie ND, Mulrooney NP, Hopkin RJ. Cragun DL, et al. Am J Med Genet A. 2004 Aug 15;129A(1):1-7. doi: 10.1002/ajmg.a.30170. Am J Med Genet A. 2004. PMID: 15266606

4

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.

Ko JM, Cheon CK, Kim GH, Yoo HW. Ko JM, et al. Eur J Pediatr. 2009 Jul;168(7):877-80. doi: 10.1007/s00431-008-0849-0. Epub 2008 Oct 14. Eur J Pediatr. 2009. PMID: 18853185

5

Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome.

Adachi M, Tachibana K, Asakura Y, Yamamoto T, Hanaki K, Oka A. Adachi M, et al. Am J Med Genet A. 2004 Aug 1;128A(4):333-9. doi: 10.1002/ajmg.a.30169. Am J Med Genet A. 2004. PMID: 15264278

6

Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.

But WM, Lo IF, Shek CC, Tse WY, Lam ST. But WM, et al. Hong Kong Med J. 2010 Feb;16(1):59-62. Hong Kong Med J. 2010. PMID: 20124576 Free article.

7

P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia.

Flück CE, Miller WL. Flück CE, et al. Curr Opin Pediatr. 2006 Aug;18(4):435-41. doi: 10.1097/01.mop.0000236395.71956.5c. Curr Opin Pediatr. 2006. PMID: 16915000 Review.

8

Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients.

Fukami M, Horikawa R, Nagai T, Tanaka T, Naiki Y, Sato N, Okuyama T, Nakai H, Soneda S, Tachibana K, Matsuo N, Sato S, Homma K, Nishimura G, Hasegawa T, Ogata T. Fukami M, et al. J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. doi: 10.1210/jc.2004-0810. Epub 2004 Oct 13. J Clin Endocrinol Metab. 2005. PMID: 15483095

9

Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.

Fan L, Ren X, Song Y, Su C, Fu J, Gong C. Fan L, et al. Orphanet J Rare Dis. 2019 Dec 30;14(1):299. doi: 10.1186/s13023-019-1283-2. Orphanet J Rare Dis. 2019. PMID: 31888681 Free PMC article.

10

Cytochrome P450 Oxidoreductase Deficiency.

Idkowiak J, Cragun D, Hopkin RJ, Arlt W. Idkowiak J, et al. 2005 Sep 8 [updated 2017 Aug 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2005 Sep 8 [updated 2017 Aug 3]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301592 Free Books & Documents. Review.

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