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PARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD

Title
PARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD
Authors
Jihyun Kim;Mi Ri Kim;Min-Geol Lee;Kyung-A Lee;Hee Jung Kim
Issue Date
2011
Journal Title
Annals of Dermatology
ISSN
1013-9087
Citation
Annals of Dermatology, Vol.23(2) : 232~235, 2011
Abstract
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.
URI

http://ir.ymlib.yonsei.ac.kr/handle/22282913/95217
DOI
10.5021/ad.2011.23.2.232
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Laboratory Medicine
1. 연구논문 > 1. College of Medicine > Dept. of Dermatology
Yonsei Authors
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