Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients-Reference-Cited by-同舟云学术

Cytochrome P450 Oxidoreductase Deficiency: Identification and Characterization of Biallelic Mutations and Genotype-Phenotype Correlations in 35 Japanese Patients

Published:2009-05-01 Issue:5 Volume:94 Page:1723-1731
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Fukami Maki¹,Nishimura Gen²,Homma Keiko³,Nagai Toshiro⁴,Hanaki Keiichi⁵,Uematsu Ayumi⁶,Ishii Tomohiro⁷,Numakura Chikahiko⁸,Sawada Hirotake⁹,Nakacho Mariko¹⁰,Kowase Takanori¹¹,Motomura Katsuaki¹²,Haruna Hidenori¹³,Nakamura Mihoko¹⁴,Ohishi Akira¹⁵,Adachi Masanori¹⁶,Tajima Toshihiro¹⁷,Hasegawa Yukihiro¹⁸,Hasegawa Tomonobu⁷,Horikawa Reiko¹⁹,Fujieda Kenji²⁰,Ogata Tsutomu¹

Affiliation:

1. Research Institute (M.F., T.O.), National Center for Child Health and Development, Tokyo 157-8535, Japan

2. Division of Radiology (G.N.), Tokyo Metropolitan Kiyose Children’s Hospital, Kiyose 204-8567, Japan

3. Departments of Laboratory Medicine (K.Ho.), Keio University Hospital, Tokyo 160-8582, Japan

4. Department of Pediatrics (T.N.), Dokkyo Medical University Koshigaya Hospital, Koshigaya 343-8555, Japan

5. Department of Pediatrics and Perinatology (K.Ha.), Tottori University Hospital, Yonago 683-8503, Japan

6. Division of Endocrinology and Metabolism (A.U.), Shizuoka Children’s Hospital, Shizuoka 420-8660, Japan

7. Pediatrics (T.I., T.H.), Keio University Hospital, Tokyo 160-8582, Japan

8. Department of Pediatrics (C.N.), Yamagata University Hospital, Yamagata 990-9585, Japan

9. Department of Pediatrics (H.S.), University of Miyazaki Hospital, Miyazaki 889-1692, Japan

10. Department of Pediatrics (M.Nakac.), Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka 594-1101, Japan

11. Department of Pediatrics (T.K.), Gunma University Hospital, Maebashi 371-8511, Japan

12. Division of Pediatrics (K.M.), Nagasaki University Hospital, Nagasaki 852-8102, Japan

13. Department of Pediatrics and Adolescent Medicine (H.H.), Juntendo University Hospital, Tokyo 113-8421, Japan

14. Department of Pediatrics, Kagoshima University Hospital (M.Nakam.), Kagoshima 890-8520, Japan

15. Department of Pediatrics (A.O.), Hamamatsu University Hospital, Hamamatsu 431-3192, Japan

16. Division of Endocrinology and Metabolism (M.A.), Kanagawa Children’s Medical Center, Yokohama 232-8555, Japan

17. Department of Pediatrics (T.T.), Hokkaido University, Sapporo 060-8638, Japan

18. Endocrinology and Metabolism Unit (Y.H.), Tokyo Metropolitan Kiyose Children’s Hospital, Kiyose 204-8567, Japan

19. Hospital (R.H.), National Center for Child Health and Development, Tokyo 157-8535, Japan

20. Department of Pediatrics (K.F.), Asahikawa Medical Collage Hospital, Asahikawa 078-8510, Japan

Publisher

The Endocrine Society

Subject

Biochemistry, medical,Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/94/5/1723/9065358/jcem1723.pdf

Reference34 articles.

1. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome.;Flück;Nat Genet,2004

2. Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.;Arlt;Lancet,2004

3. P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations.;Miller;Trends Endocrinol Metab,2004

4. Genetic and clinical features of P450 oxidoreductase deficiency.;Scott;Horm Res,2008

5. Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.;Huang;Am J Hum Genet,2005

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