Results 161 to 170 of about 4,254 (195)
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The Journal of Dermatology, 2002
AbstractPseudoxanthoma elasticum (PXE) is a heritable disease characterized by dermal, ocular, and vascular lesions that result from degeneration of the elastic fibers. Recently, the ATP‐binding cassette subfamily C member 6 (ABCC6) gene has been demonstrated to be responsible for PXE, and 43 mutations have been identified to date. However, it is still
Toshio, Ohtani, Fukumi, Furukawa
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AbstractPseudoxanthoma elasticum (PXE) is a heritable disease characterized by dermal, ocular, and vascular lesions that result from degeneration of the elastic fibers. Recently, the ATP‐binding cassette subfamily C member 6 (ABCC6) gene has been demonstrated to be responsible for PXE, and 43 mutations have been identified to date. However, it is still
Toshio, Ohtani, Fukumi, Furukawa
openaire +2 more sources
Pseudoxanthoma elasticum and nephrolithiasis
Journal of the European Academy of Dermatology and Venereology, 2005AbstractWe report the case of a 42‐year‐old man with pseudoxanthoma elasticum (PXE) and recurrent bilateral nephrolithiasis. Diagnosis of PXE was made by yellow papules on the neck and ophthalmologic angioid streaks. This diagnosis was confirmed by a skin biopsy (Von Kossa stain) and by genotyping analysis of ABCC6 (homozygous mutation R1138Q ...
B, Fabre +5 more
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Pseudoxanthoma Elasticum and Hypertension
New England Journal of Medicine, 1964THE low incidence of "essential" hypertension below the age of puberty has become more apparent as diagnostic methods have improved and new etiologic entities have been recognized. Hypertensive children are usually found to have underlying renal, cardiovascular, endocrine, metabolic, toxic or Central-nervous-system disease.1 This report adds ...
J C, PARKER +3 more
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Pseudoxanthoma elasticum: An Update
Dermatology, 1999Pseudoxanthoma elasticum (PXE) is an inherited disorder of elastic tissue with many systemic manifestations. The disease varies widely in its degree of expression and inheritance patterns and is believed to be considerably underdiagnosed due to lack of familiarity with the condition among physicians. The purpose of this article was to provide an update
D W, Sherer, A N, Sapadin, M G, Lebwohl
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Genotype-phenotype correlation in pseudoxanthoma elasticum
Atherosclerosis, 2021Shana Verschuere +2 more
exaly