| LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD. | |
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MedLine Citation:
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PMID: 21747628 Owner: NLM Status: PubMed-not-MEDLINE |
Abstract/OtherAbstract:
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LEOPARD multiple congenital anomaly syndrome inherited in an autosomal dominant manner. LEOPARD is an acronym for Lentigines, Eletrocardiographic conduction defects, Ocular hypertelorism, Pulmonary valve stenosis, Abnormalities of the genitalia, Retardation of growth, and Deafness. Clinical diagnosis is primarily based on multiple lentigines, typical facial features, and the presence of hypertrophic cardiomyopathy and/or café-au-lait macules. We report a typical case of LEOPARD syndrome with PTPN11 gene mutation associated with lentigines, electrocardiograph abnormality, ocular hypertelorism, pulmonary valve stenosis, growth retardation, and sensorineural hearing loss. |
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Authors:
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Jihyun Kim; Mi Ri Kim; Hee Jung Kim; Kyung-A Lee; Min-Geol Lee |
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Publication Detail:
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Type: Journal Article Date: 2011-05-27 |
Journal Detail:
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Title: Annals of dermatology Volume: 23 ISSN: 2005-3894 ISO Abbreviation: Ann Dermatol Publication Date: 2011 May |
Date Detail:
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Created Date: 2011-07-12 Completed Date: 2011-07-14 Revised Date: 2011-08-01 |
Medline Journal Info:
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Nlm Unique ID: 8916577 Medline TA: Ann Dermatol Country: Korea (South) |
Other Details:
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Languages: eng Pagination: 232-5 Citation Subset: - |
Affiliation:
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Department of Dermatology and Cutaneous Biology Research Institute, Yonsei University College of Medicine, Seoul, Korea. |
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