| Arterial tortuosity syndrome. | |
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MedLine Citation:
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PMID: 10748415 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a patient with arterial tortuosity syndrome (ATS), a rare disorder comprising generalized tortuosity and elongation of all major arteries, soft skin, joint laxity, severe keratoconus, and diffuse tortuosity of the carotids and of intracranial arteries. The patient's probably affected brother and sister died at an early age. Cytochemical studies excluded Ehlers-Danlos type IV and type VII syndromes. We review 11 previously described patients. |
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Authors:
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P Franceschini; A Guala; D Licata; G Di Cara; D Franceschini |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: American journal of medical genetics Volume: 91 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 2000 Mar |
Date Detail:
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Created Date: 2000-04-21 Completed Date: 2000-04-21 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 141-3 Citation Subset: IM |
Copyright Information:
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Copyright 2000 Wiley-Liss, Inc. |
Affiliation:
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Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università degli Studi di Torino, Torino, Italy. francesc@pediatria.unito.it |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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diagnosis* Adolescent Angiography Arteries / abnormalities* Carotid Arteries / abnormalities Fibroblasts / metabolism Humans Keratoconus / diagnosis Male Obesity / diagnosis Syndrome Vascular Diseases / diagnosis* |
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