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Annals of Internal Medicine

Volumn 151, Issue 12, 2009, Pages 892-

Did akhenaten have the antley-bixler syndrome?

(1) Miller, Walter L a

a UNIVERSITY OF CALIFORNIA (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME P450 REDUCTASE; FIBROBLAST GROWTH FACTOR RECEPTOR 2;

ANTLEY BIXLER SYNDROME; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FGFR 2 GENE; GENE; GENE MUTATION; HUMAN; LETTER; PHENOTYPE; POR GENE; PRIORITY JOURNAL;

ANTLEY-BIXLER SYNDROME PHENOTYPE; CRANIOSYNOSTOSES; EGYPT; FAMOUS PERSONS; HISTORY, ANCIENT; HUMANS; MALE; METABOLISM, INBORN ERRORS;

EID: 72949098108 PISSN: 00034819 EISSN: 15393704 Source Type: Journal
DOI: 10.7326/0003-4819-151-12-200912150-00012 Document Type: Letter

Times cited : (3)

References (6)

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- Braverman, I.M.¹ Redford, D.B.² Mackowiak, P.A.³

2
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- Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
- DOI 10.1038/ng1300
- Flück CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004;36:228-230 [PMID: 14758361] (Pubitemid 38282745)
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- Fluck, C.E.¹ Tajima, T.² Pandey, A.V.³ Arlt, W.⁴ Okuhara, K.⁵ Verge, C.F.⁶ Jabs, E.W.⁷ Mendonca, B.B.⁸ Fujieda, K.⁹ Miller, W.L.¹⁰

3
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- Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis
- DOI 10.1086/429417
- Huang N, Pandey AV, Agrawal V, Reardon W, Lapunzina PD, Mowat D, et al. Diversity and function of mutations in p450 oxidoreductase in patients with Antley- Bixler syndrome and disordered steroidogenesis. Am J Hum Genet. 2005;76:729-749 [PMID: 15793702] (Pubitemid 40563096)
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4
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- Genetic and clinical features of p450 oxidoreductase defi- Ciency
- PMID: 18259105
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- Scott, R.R.¹ Miller, W.L.²

5
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- Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures
- PMID: 1227559
- Antley R, Bixler D. Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Artic Ser. 1975;11:397-401. [PMID: 1227559]
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- Crisponi, G.¹ Porcu, C.² Piu, M.E.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.