| Akhenaten and the strange physiques of Egypt's 18th dynasty. | |
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MedLine Citation:
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PMID: 19380856 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Akhenaten was one of Egypt's most controversial pharaohs, in part because of his strange appearance in images produced after he had declared Aten, the Sun-disc, his one-and-only god. Whether these were symbolic representations or realistic ones that indicate a deforming genetic disorder is the subject of continuing debate. The authors present evidence that the bizarre physical features portrayed in these images are not only realistic but were shared by many members of Egypt's 18th Dynasty. The features are best explained by either 2 different familial disorders-the aromatase excess syndrome and the sagittal craniosynostosis syndrome-or a variant of the Antley-Bixler syndrome caused by a novel mutation in one of the genes controlling the P450 enzymes, which regulate steroidogenesis and cranial bone formation. |
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Authors:
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Irwin M Braverman; Donald B Redford; Philip A Mackowiak |
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Publication Detail:
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Type: Biography; Historical Article; Journal Article |
Journal Detail:
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Title: Annals of internal medicine Volume: 150 ISSN: 1539-3704 ISO Abbreviation: Ann. Intern. Med. Publication Date: 2009 Apr |
Date Detail:
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Created Date: 2009-04-21 Completed Date: 2009-05-01 Revised Date: 2009-12-17 |
Medline Journal Info:
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Nlm Unique ID: 0372351 Medline TA: Ann Intern Med Country: United States |
Other Details:
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Languages: eng Pagination: 556-60 Citation Subset: AIM; IM |
Affiliation:
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Yale University School of Medicine, Department of Dermatology, 333 Cedar Street, Box 208059, New Haven, CT 06520-8059, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Antley-Bixler Syndrome Phenotype
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genetics,
history* Aromatase / genetics Craniosynostoses / genetics, history* Egypt Famous Persons* Female History, Ancient Humans Male Metabolism, Inborn Errors / genetics, history* Mutation Paleopathology |
| Chemical | |
Reg. No./Substance:
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EC 1.14.14.1/Aromatase |
| Personal Name Subject | |
Personal Name Subject:
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Akhenaten |
| Comments/Corrections | |
Comment In:
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Ann Intern Med. 2009 Dec 15;151(12):892; author reply 892
[PMID:
20008767
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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